ClinVar Miner

Submissions for variant NC_000022.10:g.(?_32297708)_(32302503_?)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 RCV000542326 SCV000642146 uncertain significance Familial focal epilepsy with variable foci 2019-12-18 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 41-43 of the DEPDC5 gene. The 5' boundary is likely confined to intron 40. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This duplication has not been reported in the literature in individuals with DEPDC5-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the duplicated exons is currently unknown. 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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