ClinVar Miner

Submissions for variant NC_000022.10:g.(?_32150908)_(32156708_?)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 RCV003105687 SCV003793399 pathogenic Familial focal epilepsy with variable foci 2022-05-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-4 of the DEPDC5 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. 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 affected with DEPDC5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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