Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691753 | SCV000819543 | uncertain significance | Benign neonatal seizures | 2018-07-30 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCNQ3-related disease. This variant is present in population databases (rs774311301, ExAC 0.002%). This sequence change replaces glutamic acid with lysine at codon 509 of the KCNQ3 protein (p.Glu509Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |