ClinVar Miner

Submissions for variant NC_000022.11:g.(?_31764955)_(31768883_?)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 RCV001032852 SCV001196159 pathogenic Familial focal epilepsy with variable foci 2022-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with clinical features of DEPDC5-related conditions (Invitae). This variant results in a copy number gain of the genomic region encompassing exon(s) 5-7 of the DEPDC5 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701).

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