R442C (p.Arg442Cys) variant of MYH7 (Myosin-7)
R442C (p.Arg442Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Myosin storage myopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R442C (p.Arg442Cys) variant details
- p.Arg442Cys
- rs148808089
- ClinGen CA010561
- ClinVar RCV000464365
- ClinVar RCV000622007
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Myosin storage myopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.84
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Myosin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)