ClinVar Miner

Submissions for variant NC_000022.11:g.(?_31754902)_(31906517_?)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 RCV000802578 SCV000942415 pathogenic Epilepsy, familial focal, with variable foci 1 2018-09-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the DEPDC5 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 not been reported in the literature in individuals with DEPDC5-related disease. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.

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