ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)

gnomAD frequency: 0.00002  dbSNP: rs577652236
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001065868 SCV001230855 uncertain significance Familial focal epilepsy with variable foci 2024-12-19 criteria provided, single submitter clinical testing This sequence change affects codon 168 of the DEPDC5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DEPDC5 protein. This variant is present in population databases (rs577652236, gnomAD 0.007%). This variant has been observed in individual(s) with clinical features of DEPDC5-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 859700). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen RCV001200452 SCV001371422 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348460 SCV002645881 likely benign Inborn genetic diseases 2018-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.