ClinVar Miner

Submissions for variant NC_000022.11:g.(?_31760636)_(31760722_?)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 RCV001033752 SCV001197059 pathogenic Familial focal epilepsy with variable foci 2019-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the DEPDC5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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