ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1459C>T (p.Arg487Ter) (rs587777459)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008659 SCV001168438 pathogenic not provided 2019-02-25 criteria provided, single submitter clinical testing The R487X nonsense variant in the DEPDC5 gene has been reported previously in the heterozygous state in two siblings with nocturnal frontal lobe epilepsy and intellectual disability (Dibbens et al., 2013), and another family with nocturnal frontal lobe epilepsy (Picard et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R487X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, the presence of R487X is consistent with the diagnosis of a DEPDC5-related disorder in this individual.
OMIM RCV000128401 SCV000171999 pathogenic Epilepsy, familial focal, with variable foci 1 2014-05-09 no assertion criteria provided literature only
GeneReviews RCV000128401 SCV000211894 pathogenic Epilepsy, familial focal, with variable foci 1 2015-02-19 no assertion criteria provided literature only
GeneReviews RCV000128401 SCV000321063 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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