ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter)

dbSNP: rs1602010382
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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 RCV002234909 SCV000941017 pathogenic Familial focal epilepsy with variable foci 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 646869). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr408*) in the DEPDC5 gene. 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).

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