ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter)

dbSNP: rs1573984787
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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 RCV001382665 SCV001581560 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070504). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 18930999). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1453*) 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).

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