Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421845 | SCV000536449 | uncertain significance | not provided | 2017-01-20 | criteria provided, single submitter | clinical testing | The R282Q variant in the SKI gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R282Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R282Q 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 conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R282Q as a variant of uncertain significance. |