Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001467078 | SCV001671096 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-12-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 406260). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. This sequence change creates a premature translational stop signal (p.Gln447*) in the SCN8A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN8A are known to be pathogenic (PMID: 19254928, 32651551). |