ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4338+616G>A (rs1366966423)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
VIB - Center for Molecular Neurology,University of Antwerp RCV000855538 SCV000995825 likely pathogenic Severe myoclonic epilepsy in infancy 2018-09-19 no assertion criteria provided research Our study identified a de novo variant in a poison exon of SCN1A in a patient with Dravet syndrome, that was absent in publicly available databases such as gnomAD, which is consistent with negative selection in human populations. The variant was validated with Sanger sequencing, and maternity and paternity was confirmed using the same in-house developed multiplex PCR panel.

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