ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)

dbSNP: rs779614747
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180864 SCV000221829 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx 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, Mayo Clinic RCV000189014 SCV001713201 pathogenic not provided 2019-08-26 criteria provided, single submitter clinical testing PVS1, PS4_moderate, PM2, PM6

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