ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter)

dbSNP: rs2105793066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864760 SCV002124493 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1135*) 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 has not been reported in the literature in individuals affected with SCN1A-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1359602).

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