ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1109G>A (p.Trp370Ter)

dbSNP: rs2105867367
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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 RCV001925698 SCV002182292 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This sequence change creates a premature translational stop signal (p.Trp370*) 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 is not present in population databases (gnomAD no frequency).

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