ClinVar Genomic variation as it relates to human health
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
Variation ID: 13916 Accession: VCV000013916.24
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 10q11.21 10: 43113655 (GRCh38) [ NCBI UCSC ] 10: 43609103 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 1, 2024 Jan 17, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_020975.6:c.1859G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066124.1:p.Cys620Tyr missense NM_000323.2:c.1859G>A NP_000314.1:p.Cys620Tyr missense NM_001355216.2:c.1097G>A NP_001342145.1:p.Cys366Tyr missense NM_001406743.1:c.1859G>A NP_001393672.1:p.Cys620Tyr missense NM_001406744.1:c.1859G>A NP_001393673.1:p.Cys620Tyr missense NM_001406759.1:c.1859G>A NP_001393688.1:p.Cys620Tyr missense NM_001406760.1:c.1859G>A NP_001393689.1:p.Cys620Tyr missense NM_001406761.1:c.1730G>A NP_001393690.1:p.Cys577Tyr missense NM_001406762.1:c.1730G>A NP_001393691.1:p.Cys577Tyr missense NM_001406763.1:c.1859G>A NP_001393692.1:p.Cys620Tyr missense NM_001406764.1:c.1730G>A NP_001393693.1:p.Cys577Tyr missense NM_001406765.1:c.1859G>A NP_001393694.1:p.Cys620Tyr missense NM_001406766.1:c.1571G>A NP_001393695.1:p.Cys524Tyr missense NM_001406767.1:c.1571G>A NP_001393696.1:p.Cys524Tyr missense NM_001406768.1:c.1730G>A NP_001393697.1:p.Cys577Tyr missense NM_001406769.1:c.1463G>A NP_001393698.1:p.Cys488Tyr missense NM_001406770.1:c.1571G>A NP_001393699.1:p.Cys524Tyr missense NM_001406771.1:c.1421G>A NP_001393700.1:p.Cys474Tyr missense NM_001406772.1:c.1463G>A NP_001393701.1:p.Cys488Tyr missense NM_001406773.1:c.1421G>A NP_001393702.1:p.Cys474Tyr missense NM_001406774.1:c.1334G>A NP_001393703.1:p.Cys445Tyr missense NM_001406775.1:c.1133G>A NP_001393704.1:p.Cys378Tyr missense NM_001406776.1:c.1133G>A NP_001393705.1:p.Cys378Tyr missense NM_001406777.1:c.1133G>A NP_001393706.1:p.Cys378Tyr missense NM_001406778.1:c.1133G>A NP_001393707.1:p.Cys378Tyr missense NM_001406779.1:c.962G>A NP_001393708.1:p.Cys321Tyr missense NM_001406780.1:c.962G>A NP_001393709.1:p.Cys321Tyr missense NM_001406781.1:c.962G>A NP_001393710.1:p.Cys321Tyr missense NM_001406782.1:c.962G>A NP_001393711.1:p.Cys321Tyr missense NM_001406783.1:c.833G>A NP_001393712.1:p.Cys278Tyr missense NM_001406784.1:c.869G>A NP_001393713.1:p.Cys290Tyr missense NM_001406786.1:c.833G>A NP_001393715.1:p.Cys278Tyr missense NM_001406787.1:c.962G>A NP_001393716.1:p.Cys321Tyr missense NM_001406788.1:c.674G>A NP_001393717.1:p.Cys225Tyr missense NM_001406789.1:c.674G>A NP_001393718.1:p.Cys225Tyr missense NM_001406790.1:c.674G>A NP_001393719.1:p.Cys225Tyr missense NM_001406792.1:c.410G>A NP_001393721.1:p.Cys137Tyr missense NM_001406793.1:c.410G>A NP_001393722.1:p.Cys137Tyr missense NM_001406794.1:c.410G>A NP_001393723.1:p.Cys137Tyr missense NM_020629.2:c.1859G>A NP_065680.1:p.Cys620Tyr missense NM_020630.7:c.1859G>A NP_065681.1:p.Cys620Tyr missense NC_000010.11:g.43113655G>A NC_000010.10:g.43609103G>A NG_007489.1:g.41587G>A LRG_518:g.41587G>A LRG_518t1:c.1859G>A LRG_518p1:p.Cys620Tyr LRG_518t2:c.1859G>A LRG_518p2:p.Cys620Tyr P07949:p.Cys620Tyr - Protein change
- C620Y, C366Y, C225Y, C321Y, C445Y, C488Y, C524Y, C278Y, C290Y, C378Y, C577Y, C137Y, C474Y
- Other names
- -
- Canonical SPDI
- NC_000010.11:43113654:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3522 | 3642 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic/Likely pathogenic (3) |
no assertion criteria provided
|
May 13, 2016 | RCV000014936.34 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 17, 2024 | RCV000021801.16 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 7, 2021 | RCV000413879.20 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 13, 2016 | RCV000420281.9 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 13, 2016 | RCV000428368.9 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 13, 2016 | RCV000441133.9 | |
Pathogenic (1) |
no assertion criteria provided
|
Apr 30, 2009 | RCV000678747.9 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 13, 2016 | RCV000431330.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 20, 2022 | RCV002408464.9 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Dec 04, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000886049.4
First in ClinVar: Jan 09, 2017 Last updated: Jan 08, 2022 |
Comment:
The RET c.1859G>A; p.Cys620Tyr variant is published in the medical literature in individuals affected with multiple endocrine neoplasia type 2A (MEN2A) or MEN2A-associated cancers (Donis-Keller … (more)
The RET c.1859G>A; p.Cys620Tyr variant is published in the medical literature in individuals affected with multiple endocrine neoplasia type 2A (MEN2A) or MEN2A-associated cancers (Donis-Keller 1993, Frank-Raue 2011, Orgiana 2004). Additionally, other amino acid substitutions at this codon (Arg, Phe, and Ser) are described as causative for MEN2A, though missense variants at this codon often exhibit incomplete penetrance (Wells 2015). The p.Cys620Tyr variant is reported as pathogenic by multiple laboratories in the ClinVar database (Variation ID: 13916), and it is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The cysteine at codon 620 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. Considering available information, the p.Cys620Tyr variant is considered to be pathogenic. References: Donis-Keller H et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 1993 Jul;2(7):851-6. Frank-Raue K et al. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat. 2011 Jan;32(1):51-8. Orgiana G et al. A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure. J Clin Endocrinol Metab. 2004 Oct;89(10):4810-6. Wells SA Jr et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610. (less)
|
|
Pathogenic
(Jan 17, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Multiple endocrine neoplasia, type 2
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000934750.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 620 of the RET protein … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 620 of the RET protein (p.Cys620Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with medullary thyroid carcinoma (MTC) and pheochromocytoma (PMID: 8797874, 9820617, 16322339, 16868135, 18062802, 18063059, 20979234, 26556299). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13916). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects RET function (PMID: 9012462, 15472167). This variant disrupts the p.Cys620 amino acid residue in RET. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7849720, 7874109, 9146685, 9384613, 18206480, 19336503, 19826964, 24805091). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Aug 13, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV001468027.1
First in ClinVar: Jan 07, 2021 Last updated: Jan 07, 2021 |
Comment on evidence:
PS2, PS3, PS4, PM2, PM5
|
|
Pathogenic
(Oct 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics
Accession: SCV002771205.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
Comment:
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features … (more)
This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Over 90% of MEN2A and FMTC families have missense variants in one of six conserved cysteine residues at codons 609, 611, 618, 620, 630 or 634 in the extracellular cysteine-rich region (PMID 19443294). This variant is defined by the American Thyroid Association as being of moderate risk for developing MTC (PMID: 19469690, 25810047). Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant activates RET protein kinase transforming capability, thereby inducing the protein's oncogenic activation (PMID 9230192, 18248647, 15472167, 9012462). This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. (less)
|
|
Pathogenic
(Jul 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000490769.4
First in ClinVar: Jan 09, 2017 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: transforming activity, increased phosphorylation at RET p.Tyr905 (Orgiana 2004, Ercolino 2008); In silico analysis supports that this missense … (more)
Published functional studies demonstrate a damaging effect: transforming activity, increased phosphorylation at RET p.Tyr905 (Orgiana 2004, Ercolino 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 32408902, 31510104, 9820617, 14633923, 16158949, 15472167, 9681515, 26556299, 28698976, 8733882, 9174404, 21309721, 22865907, 21995290, 16411177, 12563086, 8103403, 9067749, 20979234, 18062802, 18248647) (less)
|
|
Pathogenic
(Dec 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002724071.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.1859G>A (p.C620Y) alteration is located in exon 10 (coding exon 10) of the RET gene. This alteration results from a G to A substitution … (more)
The c.1859G>A (p.C620Y) alteration is located in exon 10 (coding exon 10) of the RET gene. This alteration results from a G to A substitution at nucleotide position 1859, causing the cysteine (C) at amino acid position 620 to be replaced by a tyrosine (Y). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This pathogenic mutation has been well described in numerous individuals with familial medullary thyroid cancer (FMTC) (Donis-Keller, 1993; Schuffenecker, 1994; Fink, 1996; Frank-Raue, 2011; Schrader, 2016) and has also been described in a patient with Hirschsprung disease (Frank-Raue, 2011). Furthermore, codon 620 is a well-described mutation hotspot with numerous pathogenic alterations reported at this position (Kloos, 2009; Wells, 2015). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
Pathogenic
(Sep 04, 2013)
|
no assertion criteria provided
Method: literature only
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000035192.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
See 164761.0007. Based on the partial sequence of the RET gene, this mutation was known as CYS366TYR.
|
|
Likely pathogenic
(May 13, 2016)
|
no assertion criteria provided
Method: literature only
|
Multiple endocrine neoplasia type 2A
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000510547.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 13, 2016)
|
no assertion criteria provided
Method: literature only
|
Multiple endocrine neoplasia type 2B
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000510548.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 13, 2016)
|
no assertion criteria provided
Method: literature only
|
Multiple endocrine neoplasia type 4
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000510549.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 13, 2016)
|
no assertion criteria provided
Method: literature only
|
Medullary thyroid carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000510550.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 13, 2016)
|
no assertion criteria provided
Method: literature only
|
Multiple endocrine neoplasia, type 1
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000510551.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Pathogenic
(Apr 30, 2009)
|
no assertion criteria provided
Method: clinical testing
|
Hirschsprung disease
Affected status: yes
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000804919.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
Pathogenic
(Apr 30, 2009)
|
no assertion criteria provided
Method: clinical testing
|
Multiple endocrine neoplasia, type 2a
Affected status: yes
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000804920.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection. | Huang Q | BMC endocrine disorders | 2020 | PMID: 32408902 |
Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations. | Elisei R | Genes | 2019 | PMID: 31510104 |
Genotype-specific progression of hereditary medullary thyroid cancer. | Machens A | Human mutation | 2018 | PMID: 29656518 |
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. | Schrader KA | JAMA oncology | 2016 | PMID: 26556299 |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. | Wells SA Jr | Thyroid : official journal of the American Thyroid Association | 2015 | PMID: 25810047 |
An extended family with familial medullary thyroid carcinoma and Hirschsprung's disease. | Igarashi T | Journal of Nippon Medical School = Nippon Ika Daigaku zasshi | 2014 | PMID: 24805091 |
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events. | Núñez-Torres R | BMC medical genetics | 2011 | PMID: 21995290 |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. | Frank-Raue K | Human mutation | 2011 | PMID: 20979234 |
Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. | Wells SA Jr | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2010 | PMID: 20065189 |
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. | Vaclavikova E | Endocrine | 2009 | PMID: 19826964 |
Medullary thyroid cancer: management guidelines of the American Thyroid Association. | American Thyroid Association Guidelines Task Force | Thyroid : official journal of the American Thyroid Association | 2009 | PMID: 19469690 |
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. | Boedeker CC | The Journal of clinical endocrinology and metabolism | 2009 | PMID: 19336503 |
The Y606C RET mutation causes a receptor gain of function. | Ercolino T | Clinical endocrinology | 2008 | PMID: 18248647 |
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. | Fialkowski EA | Journal of pediatric surgery | 2008 | PMID: 18206480 |
Familial prevalence and age of RET germline mutations: implications for screening. | Machens A | Clinical endocrinology | 2008 | PMID: 18062802 |
Pheochromocytoma penetrance varies by RET mutation in MEN 2A. | Quayle FJ | Surgery | 2007 | PMID: 18063059 |
Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. | Frank-Raue K | European journal of endocrinology | 2006 | PMID: 16868135 |
No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. | Montani M | Endocrine-related cancer | 2005 | PMID: 16322339 |
A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure. | Orgiana G | The Journal of clinical endocrinology and metabolism | 2004 | PMID: 15472167 |
Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma. | Karga HJ | European journal of endocrinology | 1998 | PMID: 9820617 |
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. | Decker RA | Human molecular genetics | 1998 | PMID: 9384613 |
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. | Ito S | Cancer research | 1997 | PMID: 9230192 |
Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. | Heshmati HM | Mayo Clinic proceedings | 1997 | PMID: 9146685 |
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. | Carlomagno F | Cancer research | 1997 | PMID: 9012462 |
Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. "Study Group Multiple Endocrine Neoplasia Austria (SMENA)". | Fink M | International journal of cancer | 1996 | PMID: 8797874 |
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. | Eng C | Journal of medical genetics | 1995 | PMID: 8825918 |
RET proto-oncogene mutations in French MEN 2A and FMTC families. | Schuffenecker I | Human molecular genetics | 1994 | PMID: 7874109 |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. | Blaugrund JE | Human molecular genetics | 1994 | PMID: 7849720 |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. | Donis-Keller H | Human molecular genetics | 1993 | PMID: 8103403 |
http://docm.genome.wustl.edu/variants/ENST00000340058:c.1859G>A | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs77503355 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.