Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817191 | SCV000957739 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2019-10-20 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCNT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 396 of the KCNT1 protein (p.His396Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. |
Gene |
RCV001766723 | SCV001998752 | uncertain significance | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV002271048 | SCV002554742 | uncertain significance | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271049 | SCV002554743 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |