ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) (rs794726799)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180917 SCV000221893 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000423099 SCV000514487 pathogenic not provided 2020-07-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 17054684, 27465585, 30182498, 30321769, 26096185, 31009440, 30868114, 23808377, 30641252, 32090326, 33278787, 31031587)
Invitae RCV000529401 SCV000633808 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg377*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Dravet syndrome (PMID: 27465585), including two individuals in whom the variant was de novo (PMID: 17054684, 23808377). ClinVar contains an entry for this variant (Variation ID: 189963). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000423099 SCV001501315 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000423099 SCV001742868 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000423099 SCV001953968 pathogenic not provided no assertion criteria provided clinical testing

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