ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) (rs794726825)

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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 RCV000180950 SCV000221932 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001052311 SCV001216516 pathogenic Early infantile epileptic encephalopathy 2019-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1518Asnfs*21) 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 nonsense change has been observed to be de novo in individuals affected with Dravet syndrome (PMID: 18930999, 26096185). ClinVar contains an entry for this variant (Variation ID: 189994). 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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