ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.163T>G (p.Tyr55Asp)

dbSNP: rs1554189322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518923 SCV000617799 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing The Y55D variant in the COL12A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y55D variant was not observed in approximately 5900 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 Y55D 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 at a position that is not conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y55D as a variant of uncertain significance.

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