ClinVar Miner

Submissions for variant NC_000022.10:g.(?_32239061)_(32272271_?)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 RCV004579040 SCV005066553 uncertain significance Familial focal epilepsy with variable foci 2023-06-17 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the DEPDC5 protein in which other variant(s) (p.Leu948Pro) have been observed in individuals with DEPDC5-related conditions (PMID: 33461085). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 28-37 of the DEPDC5 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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