ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) (rs886039255)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201364 SCV000546499 pathogenic Familial focal epilepsy with variable foci 2019-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg286*) 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 the literature in an individual affected with familial focal epilepsy with variable foci (PMID: 26704558). ClinVar contains an entry for this variant (Variation ID: 264725). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760489 SCV000890379 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing The R286X nonsense variant in the DEPDC5 gene has been reported previously in association with epilepsy (Bagnall et al., 2015; Ribierre et al., 2018). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R286X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is considered a pathogenic variant, and its presence is consistent with a DEPDC5-related disorder.
GeneReviews RCV000254575 SCV000321016 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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