ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) (rs398123643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173743 SCV000224891 likely pathogenic not provided 2015-12-30 criteria provided, single submitter clinical testing
Invitae RCV000173744 SCV000657083 pathogenic Bethlem myopathy 1 2019-12-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 293 of the COL6A1 protein (p.Gly293Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (rs398123643, ExAC no frequency). This variant has been reported in individuals affected with Bethlem myopathy and individuals affected with Ullrich congenital muscular dystrophy (PMID: 20976770, 22075033, 22975586, 24038877, 24223098, 26867126, 27363342, 27854213). ClinVar contains an entry for this variant (Variation ID: 93895). Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL6A1, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 15689448, 24038877) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.

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