ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720279 SCV000851156 uncertain significance Seizures 2016-08-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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
GeneReviews RCV000254574 SCV000321059 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000193474 SCV000247184 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing
Invitae RCV000254574 SCV000546537 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-09-10 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%). This variant has been reported in a single family affected with familial focal epilepsy with variable foci. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 23542697). ClinVar contains an entry for this variant (Variation ID: 210846). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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