NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) AND Familial isolated deficiency of vitamin E

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000055805.3

Allele description [Variation Report for NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)]

NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)

Gene:

TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.3

Genomic location:

Preferred name:

NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)

HGVS:

NC_000008.11:g.63061353C>G
NG_016123.1:g.29701G>C
NM_000370.3:c.736G>CMANE SELECT
NP_000361.1:p.Gly246Arg
NC_000008.10:g.63973912C>G
NM_000370.2:c.736G>C
P49638:p.Gly246Arg

Protein change:

G246R

Links:

UniProtKB: P49638#VAR_022392; dbSNP: rs397515526

NCBI 1000 Genomes Browser:

rs397515526

Molecular consequence:

NM_000370.3:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial isolated deficiency of vitamin E (AVED)
Synonyms:: Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; Friedreich-like ataxia with selective vitamin E deficiency
Identifiers:: MONDO: MONDO:0010188; MedGen: C1848533; Orphanet: 96; OMIM: 277460

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000086774	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000086774

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Ataxia with Vitamin E Deficiency.

Schuelke M.

2005 May 20 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301419

Details of each submission

From GeneReviews, SCV000086774.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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