A28T (p.Ala28Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
A28T (p.Ala28Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1. The record also includes published literature and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs2504185511
- ClinGen CA391633190
- ClinVar RCV002900405
- NCI-TCGA TCGA novel
- Conflicting interpretations
- Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic cardiomyopathy 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Atrial septal defect 5; Dilated cardiomyopathy 1R; Hypertrophic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)