ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044471 SCV001208270 pathogenic Familial focal epilepsy with variable foci 2019-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr226*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.

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