ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter)

dbSNP: rs1553540294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233481 SCV001406078 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant has been observed in individual(s) with Dravet syndrome (PMID: 18930999). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1061*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product.

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