R377C (p.Arg377Cys) variant of LMNA (Prelamin-A/C)
R377C (p.Arg377Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R377C (p.Arg377Cys) variant details
- p.Arg377Cys
- rs397517889
- ClinGen CA016641
- cosmic curated COSV61542
- ClinVar RCV000041308
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 1A; Emery-Dreif)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)