Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202503 | SCV001373616 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2019-09-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNQ2-related conditions. This variant is present in population databases (rs542553752, ExAC 0.02%). This sequence change replaces isoleucine with valine at codon 177 of the KCNQ2 protein (p.Ile177Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. |