ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) (rs768456731)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218377 SCV001390257 uncertain significance Familial focal epilepsy with variable foci 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 90 of the DEPDC5 protein (p.Val90Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs768456731, ExAC 0.006%). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 24591017). ClinVar contains an entry for this variant (Variation ID: 264750). This variant has been reported not to substantially affect DEPDC5 protein function (PMID: 25366275). 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.
GeneReviews RCV000254602 SCV000321046 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656067 SCV000588343 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.