D42N (p.Asp42Asn) variant of MYH7 (Myosin-7)
D42N (p.Asp42Asn) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Myopathy, myosin storage, autosomal recessive; Dilated cardiomyopathy 1S; Congen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- rs780785242
- ClinGen CA027886
- ClinVar RCV001190030
- ClinVar RCV002484038
- Conflicting interpretations
- Myopathy, myosin storage, autosomal recessive; Dilated cardiomyopathy 1S; Congen
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.30
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Myopathy, myosin storage, autosomal recessive; Dilated cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-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)