M1V (p.Met1Val) variant of ACTN2 (Alpha-actinin-2)
M1V (p.Met1Val) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2527437803
- ClinGen CA345358000
- ClinVar RCV002642822
- Uncertain significance
- Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)