ClinVar Miner

Submissions for variant NC_000002.12:g.(?_165991225)_(166311776_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032875 SCV001196182 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-12-02 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SCN1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in individual(s) with Dravet syndrome (PMID: 17561957, 16865694, 20522430, 21719429, 26068938). In at least one individual the variant was observed to be de novo. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.

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