L92V (p.Leu92Val) variant of LMNA (Prelamin-A/C)
L92V (p.Leu92Val) 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; Cardiovascular phenotype; Cardiomyopathy. 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.
L92V (p.Leu92Val) variant details
- p.Leu92Val
- rs267607560
- ClinGen CA342808563
- ClinVar RCV001054035
- ClinVar RCV001170450
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; Ca)
- EBI: Likely pathogenic (in CMD1A)
- UniProt: Likely pathogenic (in CMD1A)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)