ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) (rs886039268)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034640 SCV000826313 pathogenic Familial focal epilepsy with variable foci 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1268*) 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 been reported in an individual affected with focal epilepsy with variable foci, but was not observed in similarly affected family members (PMID: 23542697). ClinVar contains an entry for this variant (Variation ID: 264741). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000254590 SCV001429133 pathogenic Epilepsy, familial focal, with variable foci 1 2017-07-21 criteria provided, single submitter clinical testing
GeneReviews RCV000254590 SCV000321037 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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