ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) (rs886039261)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201358 SCV000642160 pathogenic Familial focal epilepsy with variable foci 2019-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln519*) 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 infantile spasms (PMID: 27066554). ClinVar contains an entry for this variant (Variation ID: 264732). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000720898 SCV000851782 pathogenic Seizures 2017-06-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000760482 SCV000890371 pathogenic not provided 2018-09-05 criteria provided, single submitter clinical testing The Q519X nonsense variant in the DEPDC5 gene has been reported previously in an individual with seizures, global developmental delay, and autistic features; this variant was inherited from a father with frontal lobe epilepsy (Carvill et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q519X variant is not observed in large population cohorts (Lek et al., 2016).
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000254578 SCV001431560 pathogenic Epilepsy, familial focal, with variable foci 1 criteria provided, single submitter clinical testing
GeneReviews RCV000254578 SCV000321025 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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