Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521564 | SCV000621599 | uncertain significance | not provided | 2017-10-16 | criteria provided, single submitter | clinical testing | The E964Q variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E964Q variant is not observed in large population cohorts (Lek et al., 2016). The E964Q 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 not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E964Q as a variant of uncertain significance. |