ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7949A>G (p.Asp2650Gly) (rs1553546590)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522283 SCV000617901 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing The D2650G variant in the COL6A3 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The D2650G variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The D2650G variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is not conserved. In silico analysis is inconsistent in its predictions as to whether or notthe variant is damaging to the protein structure/function.

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