R7Q (p.Arg7Gln) variant of LMNA (Prelamin-A/C)
R7Q (p.Arg7Gln) 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 Charcot-Marie-Tooth disease type 2; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs751916168
- ClinGen CA052022
- ClinVar RCV000476932
- ClinVar RCV001181379
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.46
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not specified; Cardiomyopath)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)