ClinVar Genomic variation as it relates to human health
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
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 | |||
GABRA1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
658 | 694 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 6, 2022 | RCV003044479.2 | |
Likely pathogenic (1) |
|
Jul 1, 2024 | RCV004598232.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024