G380R (p.Gly380Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G380R (p.Gly380Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
G380R (p.Gly380Arg) variant details
- p.Gly380Arg
- rs1401779653
- ClinGen CA410524709
- cosmic curated COSV62613
- ClinVar RCV003518370
- Pathogenic/Likely pathogenic
- not provided; Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bethlem myopathy 1A; Ullrich congenital muscular d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)