ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)

dbSNP: rs398123643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390509 SCV001592250 pathogenic Bethlem myopathy 1A 2020-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This variant disrupts the p.Gly293 amino acid residue in COL6A1. Other variant(s) that disrupt this residue have been observed in individuals with COL6A1-related conditions (PMID: 24038877, 24223098, 27363342, 22975586, 20976770), which suggests that this may be a clinically significant amino acid residue. This variant has not been reported in the literature in individuals with COL6A1-related conditions. 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 (ExAC no frequency).

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