W816C (p.Trp816Cys) variant of MYH7 (Myosin-7)
W816C (p.Trp816Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy. The record also includes published literature and structural context.
W816C (p.Trp816Cys) variant details
- p.Trp816Cys
- rs2502284266
- ClinGen CA389048389
- ClinVar RCV002810074
- ClinVar RCV006635988
- Likely pathogenic
- Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy
- Missense
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)