ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) (rs397515332)

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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 RCV000050245 SCV000331198 likely pathogenic not provided 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000050245 SCV000620625 likely pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing The G2065S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G2065S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs within the Gly-X-Y motif in the triple helical (TH) domain of collagen VI, a region that is well-conserved across species. Additionally, a different missense variant at the same position (G2065D) has been reported in an individual with Ullrich congenital muscular dystrophy (Pace et al., 2008). In silico analysis predicts this variant is probably damaging to the protein structure/function.

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