ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs)

dbSNP: rs2148953095
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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 RCV001381030 SCV001579281 pathogenic Familial focal epilepsy with variable foci 2020-01-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DEPDC5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr759Leufs*33) 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). For these reasons, this variant has been classified as Pathogenic.

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