ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)

dbSNP: rs1553532671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001375622 SCV001572544 pathogenic Severe myoclonic epilepsy in infancy 2021-04-25 criteria provided, single submitter clinical testing
Invitae RCV001390716 SCV001592517 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-03-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1065174). This variant is also known as Trp1193X. This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 11940708, 31864146). This sequence change creates a premature translational stop signal (p.Trp1204*) 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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