R527L (p.Arg527Leu) variant of LMNA (Prelamin-A/C)
R527L (p.Arg527Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; Cardiomyopathy; Primary dilated cardiomyopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R527L (p.Arg527Leu) variant details
- p.Arg527Leu
- rs57520892
- ClinGen CA342823487
- ClinVar RCV001178403
- ClinVar RCV001875896
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; Cardiomyopathy; Primary dilated cardiomyopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.87
- MetaSVM 0.94
- CADD 28.70
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; Cardiomyopathy; Primary dila)
- EBI: Pathogenic (in EDMD2 and FPLD2)
- UniProt: Pathogenic (in EDMD2 and FPLD2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)