ClinVar Miner

Submissions for variant NC_000002.12:g.(?_166009699)_(166015748_?)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 RCV001032030 SCV001195337 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-09-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 17-20 of the SCN1A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Dravet syndrome (PMID: 26339958). The region of the SCN1A gene that includes exon(s) exon(s) 17-18 has been determined to be clinically significant (PMID: 21248271). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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