ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) (rs398123585)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000255527 SCV000111444 pathogenic not provided 2013-04-03 criteria provided, single submitter clinical testing
Center for Bioinformatics, Peking University RCV000174048 SCV000221912 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Athena Diagnostics Inc RCV000174048 SCV000255814 pathogenic Severe myoclonic epilepsy in infancy 2014-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000255527 SCV000321938 pathogenic not provided 2019-05-28 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: 26096185, 25525159, 16458823, 18930999, 17054684, 25459968, 18804930, 24422737, 22409937, 27236449, 27810515, 31009440, 32090326, 33278787)
Fulgent Genetics,Fulgent Genetics RCV000515441 SCV000611315 pathogenic Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000557283 SCV000633816 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg613*) 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 to be de novo in individuals affected with Dravet syndrome (PMID: 16458823, 17054684, 1893099). ClinVar contains an entry for this variant (Variation ID: 93635). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.

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