Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539801 | SCV003340563 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-04-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SCN1A protein in which other variant(s) (p.Gln1923His) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1300200). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1831Valfs*6) in the SCN1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acid(s) of the SCN1A protein. |
Unidad de Genómica Garrahan, |
RCV001731219 | SCV001981629 | pathogenic | Severe myoclonic epilepsy in infancy | 2020-06-29 | no assertion criteria provided | clinical testing |