Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486751 | SCV000574343 | uncertain significance | not provided | 2017-03-30 | criteria provided, single submitter | clinical testing | The V740A variant in the KCNQ2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V740A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V740A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution is predicted to be within the C-terminal cytoplasmic domain and occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V740A as a variant of uncertain significance. |