ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer)

dbSNP: rs1553529426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636269 SCV000757708 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2017-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.Met1333*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product.

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