G305R (p.Gly305Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G305R (p.Gly305Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and published literature.
G305R (p.Gly305Arg) variant details
- p.Gly305Arg
- rs1469287281
- gnomAD rs1469287281
- ClinGen CA410522312
- ClinVar RCV001991241
- Likely pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bethlem myopathy 1A)
- EBI: Likely pathogenic (in BTHLM1A)
- UniProt: Likely pathogenic (in BTHLM1A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)