Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462226 | SCV000553813 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2020-02-07 | criteria provided, single submitter | clinical testing | In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs745965148, ExAC <0.01%) but has not been reported in the literature in individuals with a KCNT1-related disease. This sequence change replaces arginine with histidine at codon 417 of the KCNT1 protein (p.Arg417His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001280778 | SCV001468103 | uncertain significance | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270512 | SCV002554746 | uncertain significance | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270513 | SCV002554748 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |