ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)

dbSNP: rs1573973548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986877 SCV001136025 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588704 SCV004292120 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1514Ilefs*23) 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). This premature translational stop signal has been observed in individual(s) with SCN1A-related conditions (PMID: 28664031). ClinVar contains an entry for this variant (Variation ID: 801793). For these reasons, this variant has been classified as Pathogenic.

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