ClinVar Genomic variation as it relates to human health
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
Germline
Classification
(2)
Pathogenic/Likely 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 | |||
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
286 | 311 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 4, 2023 | RCV003084865.2 | |
Likely pathogenic (1) |
|
Mar 29, 2023 | RCV003332408.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024