ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2732G>T (p.Gly911Val) (rs149310819)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520917 SCV000622028 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing The G911V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G911V variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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