Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |