ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer)

dbSNP: rs794726705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180808 SCV000221767 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002517631 SCV003525064 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-07-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 20431604). In at least one individual the variant was observed to be de novo. This sequence change creates a premature translational stop signal (p.Phe1415*) 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). ClinVar contains an entry for this variant (Variation ID: 189854). For these reasons, this variant has been classified as Pathogenic.

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