Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180864 | SCV000221829 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Gene |
RCV000189014 | SCV000242645 | pathogenic | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 124 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22409937, 17054684, 18930999, 17347258, 26096185, 35074891, 31440721, 30368457, 32845893, 32090326) |
Athena Diagnostics Inc | RCV000180864 | SCV000255834 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-05-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000692766 | SCV000820608 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189912). This premature translational stop signal has been observed in individual(s) with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (PMID: 17054684, 17347258, 18930999, 22409937). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1886*) in the SCN1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 124 amino acid(s) of the SCN1A protein. |
Mayo Clinic Laboratories, |
RCV000189014 | SCV001713201 | pathogenic | not provided | 2019-08-26 | criteria provided, single submitter | clinical testing | PVS1, PS4_moderate, PM2, PM6 |