R527C (p.Arg527Cys) variant of LMNA (Prelamin-A/C)
R527C (p.Arg527Cys) 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; not provided; Cardiomyopathy. 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.
R527C (p.Arg527Cys) variant details
- p.Arg527Cys
- rs57318642
- ClinGen CA017487
- ClinVar RCV000015576
- ClinVar RCV000057324
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided; Cardiomyopathy)
- EBI: Pathogenic (in HGPS)
- UniProt: Pathogenic (in HGPS)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM… (PMID 12768443)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)