R25L (p.Arg25Leu) variant of LMNA (Prelamin-A/C)
R25L (p.Arg25Leu) 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 Cardiovascular phenotype; Congenital muscular dystrophy due to LMNA mutation; Ma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs61578124
- ClinGen CA054268
- ClinVar RCV000236179
- ClinVar RCV001079756
- Conflicting interpretations
- Cardiovascular phenotype; Congenital muscular dystrophy due to LMNA mutation; Ma
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 32.00
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Congenital muscular dystrophy due to L)
- EBI: Likely pathogenic (in EDMD2)
- UniProt: Likely pathogenic (in EDMD2)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- 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)