ClinVar Genomic variation as it relates to human health
NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(3)
Likely pathogenic(1); Uncertain significance(3)
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ADAMTSL4 | - | - |
GRCh38 GRCh37 |
418 | 1240 | |
ADAMTSL4-AS2 | - | - | - | GRCh38 | - | 784 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 10, 2023 | RCV002617599.2 | |
Uncertain significance (1) |
|
Mar 31, 2022 | RCV002617598.2 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003340523.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003340524.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024