ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs)

dbSNP: rs1553534296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539067 SCV000633846 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2017-07-06 criteria provided, single submitter clinical testing Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant has not been reported in the literature in individuals with SCN1A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1144Thrfs*3) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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