ClinVar Genomic variation as it relates to human health
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
ALDH3A2 | - | - |
GRCh38 GRCh37 |
626 | 748 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 16, 2019 | RCV001783354.4 | |
Pathogenic (1) |
|
Dec 18, 2021 | RCV002541147.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024