D74G (p.Asp74Gly) variant of MYH7 (Myosin-7)
D74G (p.Asp74Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D74G (p.Asp74Gly) variant details
- p.Asp74Gly
- rs730880831
- ClinGen CA011994
- ClinVar RCV000158726
- ClinVar RCV000698011
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.62
- MetaSVM -0.12
- CADD 25.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)