ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) (rs794726710)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000180814 SCV000255823 pathogenic Severe myoclonic epilepsy in infancy 2014-06-10 criteria provided, single submitter clinical testing
Center for Bioinformatics, Peking University RCV000180814 SCV000221776 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000585684 SCV000693448 pathogenic Seizures 2017-09-14 criteria provided, single submitter clinical testing This pathogenic mutation in the SCN1A gene was found in a child with epilepsy since the age of 5 months.
GeneDx RCV000189082 SCV000242713 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing p.Arg1213Ter (CGA>TGA): c.3637 C>T in exon 18 of the SCN1A gene (NM_001165963.1) The R1213X nonsense mutation in the SCN1A gene has been reported previously in a monozygotic twins with severe myoclonic epilepsy of infancy (Fujiwara et al., 2003) and in a patient with intractable epilepsy (Wang et al., 2012). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of the R1213X mutation is consistent with a diagnosis of a SCN1A-related disorder. The variant is found in EPILEPSY panel(s).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000180814 SCV000265529 pathogenic Severe myoclonic epilepsy in infancy 2014-11-04 criteria provided, single submitter research
Invitae RCV000808766 SCV000948885 pathogenic Early infantile epileptic encephalopathy 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1213*) 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 several individuals affected with intractable epilepsy and Dravet syndrome, including several individuals in which it was reported to have arisen de novo (PMID: 12566275, 23934111, 23195492, 18930999). ClinVar contains an entry for this variant (Variation ID: 189861). 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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