R369Q (p.Arg369Gln) variant of MYH7 (Myosin-7)
R369Q (p.Arg369Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R369Q (p.Arg369Gln) variant details
- p.Arg369Gln
- rs397516089
- ClinGen CA010192
- ClinVar RCV000035698
- ClinVar RCV000223685
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.82
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.36
- CADD 23.50
- PolyPhen-2 0.05
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)