R296C (p.Arg296Cys) variant of LMNA (Prelamin-A/C)
R296C (p.Arg296Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R296C (p.Arg296Cys) variant details
- p.Arg296Cys
- rs375987939
- ClinGen CA31011836
- cosmic curated COSV61543
- ClinVar RCV000808152
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; Cardiovascular phenotype; Famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)