R60G (p.Arg60Gly) variant of LMNA (Prelamin-A/C)
R60G (p.Arg60Gly) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy 1A; Familial partial lipodystrophy, Dunnigan type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R60G (p.Arg60Gly) variant details
- p.Arg60Gly
- rs28928900
- ClinGen CA017722
- ClinVar RCV000015566
- ClinVar RCV000015567
- Pathogenic
- Dilated cardiomyopathy 1A; Familial partial lipodystrophy, Dunnigan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic (Dilated cardiomyopathy 1A; Familial partial lipodystrophy, Dunni)
- EBI: Pathogenic (in CMD1A and FPLD2)
- UniProt: Pathogenic (in CMD1A and FPLD2)
- Structural context available
- Cited in: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system… (PMID 10580070)
- Cited in: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial… (PMID 11792809)