Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498175 | SCV000590237 | uncertain significance | not provided | 2017-06-08 | criteria provided, single submitter | clinical testing | The G802A variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G802A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G802A 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 and occurs at a G-X-Y motif within a triple helical region. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G802A as a variant of uncertain significance. |