R350W (p.Arg350Trp) variant of DES (Desmin)
R350W (p.Arg350Trp) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Desmin-related myofibrillar myopathy; Primary familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R350W (p.Arg350Trp) variant details
- p.Arg350Trp
- rs62636492
- ClinGen CA133808
- ClinVar RCV000037224
- ClinVar RCV000056766
- Conflicting interpretations
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy; Primary familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.85
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Desmin-related myofibrillar myopathy;)
- EBI: Pathogenic (in Kaeser syndrome and MFM1)
- UniProt: Pathogenic (in Kaeser syndrome and MFM1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Prevalence of desmin mutations in dilated cardiomyopathy. (PMID 17325244)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)