V71M (p.Val71Met) variant of MYH7 (Myosin-7)
V71M (p.Val71Met) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH7-related disorder; Dilated cardiomyopathy 1S; Congenital myopathy with fiber. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- rs730880830
- ClinGen CA011723
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV000168833
- Uncertain significance
- MYH7-related disorder; Dilated cardiomyopathy 1S; Congenital myopathy with fiber
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.67
- ESM-1b 0.18
- AlphaMissense 0.29
- MetaLR 0.81
- MetaSVM 0.87
- CADD 31.00
- ClinVar: Uncertain significance (MYH7-related disorder; Dilated cardiomyopathy 1S; Congenital myo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)