ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6248G>T (p.Gly2083Val) (rs1085307697)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489274 SCV000577066 likely pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing The G2083V variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G2083V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, affecting a Glycine residue of the triple-helical region containing Gly-X-Y repeats. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (G2080C, G2080D) have been reported in the Human Gene Mutation Database in association with COL6A3-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. However, the G2083V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. The G2083V variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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