Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001314955 | SCV001505508 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2020-01-29 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN8A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 995 of the SCN8A protein (p.Asn995Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |
| Baylor Genetics | RCV003147609 | SCV003836195 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2023-01-20 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147608 | SCV003836320 | pathogenic | Cognitive impairment with or without cerebellar ataxia | 2023-01-20 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147610 | SCV003836443 | pathogenic | Seizures, benign familial infantile, 5 | 2023-01-20 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147611 | SCV003836479 | pathogenic | Myoclonus, familial, 2 | 2023-01-20 | criteria provided, single submitter | clinical testing |