ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) (rs1057521422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444944 SCV000522723 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing The Q1509P variant in the COL11A1 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The Q1509P 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, and in silico analysis is inconsistent in its predictions as to whether ornot the variant is damaging to the protein structure/function. We interpret Q1509P as a variant ofuncertain significance.

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