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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2018-09-18 criteria provided, single submitter clinical testing The R613X nonsense pathogenic variant in the SCN1A gene has been reported as a de novo pathogenic variant multiple times in association with Dravet syndrome (Kearney et al., 2006; SCN1A Variant Database). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R613X variant is not observed in large population cohorts (Lek et al., 2016). The presence of R613X is consistent with the diagnosis of an SCN1A-related disorder in this individual.
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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