ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=)

gnomAD frequency: 0.00011  dbSNP: rs201146392
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318331 SCV000851718 likely benign Inborn genetic diseases 2017-05-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000863965 SCV001004701 likely benign Familial focal epilepsy with variable foci 2024-09-17 criteria provided, single submitter clinical testing
GeneDx RCV001585684 SCV001811284 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001585684 SCV004154904 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DEPDC5: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003953287 SCV004767100 likely benign DEPDC5-related disorder 2021-09-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.