ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228328 SCV001400723 pathogenic Early infantile epileptic encephalopathy 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1058Thrfs*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 variant has been observed in individual(s) with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (PMID: 17054684). In at least one individual the variant was observed to be de novo. This variant is also known as c.3173delAAGA / K1058fs1079X in the literature. 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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