ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.384-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004596625 SCV005088632 likely pathogenic Severe myoclonic epilepsy in infancy 2024-01-01 criteria provided, single submitter clinical testing Heterozygous splicing variant affecting the acceptor site of the exon 6, predicted to result in a null variant, in a gene where loss of function is a known mechanism of disease (PVS1). The variant has extremely low frequency in gnomAD population database (PM2mod). Present in a male patient diagnosed with Dravet Syndrome, a condition strongly associated with variants in SCN1A gene. Additionaly, one patient with Dravet Syndrome and the same variant has already been published (PMID:33681658) (PP4mod).

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