A22V (p.Ala22Val) variant of TNNC1 (P63316)
A22V (p.Ala22Val) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy. The record also includes published literature and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs2471444718
- ClinGen CA353169611
- ClinVar RCV002364560
- ClinVar RCV003776285
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)