ClinVar Genomic variation as it relates to human health
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(3)
Likely pathogenic(1); Uncertain significance(3)
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 | |||
ACTC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3 | 782 | |
GJD2-DT | - | - | - | GRCh38 | - | 762 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 6, 2023 | RCV002351923.3 | |
Uncertain significance (1) |
|
Jan 21, 2024 | RCV003103188.3 | |
Uncertain significance (1) |
|
Sep 10, 2023 | RCV003328698.1 | |
Likely pathogenic (1) |
|
Feb 9, 2024 | RCV003418469.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024