ClinVar Genomic variation as it relates to human health
NM_001101.5(ACTB):c.437G>T (p.Gly146Val)
Germline
Classification
(1)
Pathogenic
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 | |||
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
548 | 598 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC
|
Pathogenic (1) |
|
Aug 11, 2023 | RCV003320402.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024