G341C (p.Gly341Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)
G341C (p.Gly341Cys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature.
G341C (p.Gly341Cys) variant details
- p.Gly341Cys
- rs886043321
- ClinGen CA10605376
- ClinVar RCV000379396
- ClinVar RCV000801381
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.69
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.64
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A)
- UniProt: Pathogenic (in BTHLM1A)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)