ClinVar Genomic variation as it relates to human health
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
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 | |||
ACTA1 | - | - |
GRCh38 GRCh37 |
530 | 574 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2013 | RCV003333906.1 | |
Likely pathogenic (1) |
|
Aug 3, 2020 | RCV003333907.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024