ClinVar Genomic variation as it relates to human health
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely pathogenic(1); Uncertain significance(1)
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 | |||
ALDH3A2 | - | - |
GRCh38 GRCh37 |
634 | 756 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ALDH3A2-related disorder
|
Likely pathogenic (1) |
|
Oct 17, 2022 | RCV003420747.4 |
Uncertain significance (1) |
|
Jan 18, 2024 | RCV003491377.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024