ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) (rs768241563)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034641 SCV000764175 pathogenic Familial focal epilepsy with variable foci 2019-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr7*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768241563, ExAC 0.001%). This variant has been reported to segregate with DEPDC5-related epilepsy in 2 large multi-generational families (PMID: 23542697, 24585383). ClinVar contains an entry for this variant (Variation ID: 50819). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000043579 SCV000894261 pathogenic Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000043579 SCV000071578 pathogenic Epilepsy, familial focal, with variable foci 1 2013-05-01 no assertion criteria provided literature only
GeneReviews RCV000043579 SCV000320999 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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