G641S (p.Gly641Ser) variant of MYH7 (Myosin-7)
G641S (p.Gly641Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Hypertrophic cardiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
G641S (p.Gly641Ser) variant details
- p.Gly641Ser
- rs1892730026
- ClinGen CA389049529
- ClinVar RCV001349678
- ClinVar RCV003985843
- Likely pathogenic
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Hypertrophic cardiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.44
- MetaLR 0.78
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; Hypert)
- 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)