Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498312 | SCV000590503 | likely pathogenic | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | The A356V variant in the KCNQ3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A356V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A356V variant is a conservative amino acid substitution and occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A356V as a likely pathogenic variant. |