ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)

gnomAD frequency: 0.00001  dbSNP: rs758757956
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 RCV001056860 SCV001221325 uncertain significance Familial focal epilepsy with variable foci 2024-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1528 of the DEPDC5 protein (p.Arg1528Gln). This variant is present in population databases (rs758757956, gnomAD 0.02%). This missense change has been observed in individual(s) with epilepsy (PMID: 36703223). ClinVar contains an entry for this variant (Variation ID: 852283). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002479347 SCV002774949 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV002479347 SCV004174956 uncertain significance not provided 2021-08-30 no assertion criteria provided clinical testing

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.