ClinVar Miner

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

dbSNP: rs398123585
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 Migraine, familial hemiplegic, 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 2023-12-21 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. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 1893099, 16458823, 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 93635). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000174048 SCV004046874 pathogenic Severe myoclonic epilepsy in infancy 2023-10-23 criteria provided, single submitter clinical testing This heterozygous non-sense variant [PVS1] is absent in gnomAD database [PM2]. Insilico prediction [MutationTaster] predicts deleterious nature of this variant. A clinvar entry for this variant is available. A clinvar entry for this variant is available [Variation ID: 93635] with “Pathogenic” interpretation by multiple submitters [PP5]. Parental segregation confirms the “de-novo” origin of the variant. Based on the clinical correlation and available evidence, this variant is classified as "Pathogenic"

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