Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489547 | SCV000576770 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | The E2665D variant in the SETX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E2665D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2665D 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E2665D as a variant of uncertain significance. |