Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688964 | SCV000816596 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2021-02-14 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCNQ2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 604 of the KCNQ2 protein (p.Arg604His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. |
Clinical Genetics Laboratory, |
RCV001787105 | SCV002029198 | likely pathogenic | Developmental and epileptic encephalopathy, 7 | 2021-10-19 | no assertion criteria provided | clinical testing |