Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000483351 | SCV000570652 | likely pathogenic | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | The KCNQ3 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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 G293E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, targeted parental test results indicate this variant is assumed de novo in this individual. Therefore, we know interpret G293E as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded. |