ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) (rs796053004)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188938 SCV000242569 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing The R1329X nonsense variant in the SCN1A gene has been reported previously in association with Dravet syndrome (Depienne et al., 209; Selmer et al., 2009). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1329X variant is not observed in large population cohorts (Lek et al., 2016). The R1329X variant is considered a pathogenic variant, and its presence is consistent with an SCN1A-related disorder
Athena Diagnostics Inc RCV000201135 SCV000255827 pathogenic Severe myoclonic epilepsy in infancy 2014-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622874 SCV000741558 pathogenic Inborn genetic diseases 2016-06-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000201135 SCV001429123 pathogenic Severe myoclonic epilepsy in infancy 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001385509 SCV001585388 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1329*) 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 observed in individual(s) with Dravet syndrome (PMID: 18930999, 25754450). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 206816). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194614 SCV001364268 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2020-02-19 no assertion criteria provided clinical testing

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