ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3030+3861C>T (rs79027628)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193474 SCV000247184 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing
Invitae RCV001034651 SCV000546537 uncertain significance Familial focal epilepsy with variable foci 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1104 of the DEPDC5 protein (p.Ser1104Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs79027628, ExAC 0.2%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in families with familial focal epilepsy with variable foci and paroxysmal kinesigenic dyskinesia (PMID: 23542697, 29356177). ClinVar contains an entry for this variant (Variation ID: 210846). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: Not Available; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000720279 SCV000851156 likely benign Seizures 2019-06-19 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000254574 SCV000895416 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000254574 SCV001141410 uncertain significance Epilepsy, familial focal, with variable foci 1 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000254574 SCV000321059 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000254574 SCV001432416 likely benign Epilepsy, familial focal, with variable foci 1 no assertion criteria provided clinical testing

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