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 0.47 / 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 0.472
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)