R30Q (p.Arg30Gln) variant of SGCD (Delta-sarcoglycan)
R30Q (p.Arg30Gln) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs200476861
- ClinGen CA302926
- cosmic curated COSV61907
- ClinVar RCV000212998
- Conflicting interpretations
- Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)