Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533623 | SCV000634080 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This protein change has been observed to be de novo in individuals affected with early infantile epileptic encephalopathy (PMID: 25473036, Invitae). ClinVar contains an entry for this variant (Variation ID: 461423). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 305 of the KCNQ2 protein (p.Phe305Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. |