ClinVar Miner

Submissions for variant NC_000002.11:g.(?_165946640)_(166246354_?)dup

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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 RCV000640656 SCV000762251 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2019-05-10 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SCN2A gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene duplications of the SCN2A gene have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 23016767, 26068938, 21416599, 23184456, 21692795). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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