ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg)

gnomAD frequency: 0.00006  dbSNP: rs1418496907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519060 SCV000621689 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing The H1144R variant in the COL5A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H1144R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The H1144R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1144R as a variant of uncertain significance.

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