ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) (rs199942159)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413695 SCV000492205 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The D347N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D347N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D347N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. 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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