ClinVar Genomic variation as it relates to human health
NM_001690.4(ATP6V1A):c.284T>C (p.Met95Thr)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ATP6V1A | - | - |
GRCh38 GRCh37 |
287 | 318 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ATP6V1A-related disorder
|
Uncertain significance (1) |
|
May 24, 2024 | RCV003391428.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024