R541C (p.Arg541Cys) variant of LMNA (Prelamin-A/C)
R541C (p.Arg541Cys) 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 Laminopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R541C (p.Arg541Cys) variant details
- p.Arg541Cys
- rs56984562
- ClinGen CA017615
- ClinVar RCV000041325
- ClinVar RCV000057343
- Pathogenic/Likely pathogenic
- Laminopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.06
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Laminopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disea)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. (PMID 14675861)
- Cited in: Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial… (PMID 15372542)