ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)

gnomAD frequency: 0.00041  dbSNP: rs376744360
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863840 SCV001004562 benign Familial focal epilepsy with variable foci 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001536586 SCV001753365 benign not provided 2020-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32848577, 31875159, 31180159, 27683934, 27066554)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001536586 SCV002010620 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneReviews RCV000254622 SCV000321056 not provided Epilepsy, familial focal, with variable foci 1 no assertion provided literature only
PreventionGenetics, part of Exact Sciences RCV003955413 SCV004783542 likely benign DEPDC5-related disorder 2020-10-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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