ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3161C>T (p.Ser1054Phe) (rs578244490)

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 RCV001034679 SCV000817785 uncertain significance Familial focal epilepsy with variable foci 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1154 of the DEPDC5 protein (p.Ser1154Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs578244490, ExAC 0.008%). This variant has been reported in an individual with focal epilepsy (PMID: 26505888). ClinVar contains an entry for this variant (Variation ID: 264763). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Athena Diagnostics Inc RCV000991883 SCV001143718 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneReviews RCV000254610 SCV000321061 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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.