ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)

dbSNP: rs1057519107
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416201 SCV000493197 pathogenic not provided 2025-02-01 criteria provided, single submitter clinical testing DEPDC5: PVS1, PM2, PS4:Moderate
3billion, Medical Genetics RCV003152706 SCV003841736 pathogenic Epilepsy, familial focal, with variable foci 1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with DEPDC5 related disorder (PMID: 30093711). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV000416201 SCV003915244 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Reported previously in individuals with epilepsy (Baldassari et al., 2019; Jiao et al., 2019); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Goldhahn_2016_Abstract, 30945278, 33726816, 30093711)
Institute of Human Genetics, University of Leipzig Medical Center RCV003152706 SCV004027755 pathogenic Epilepsy, familial focal, with variable foci 1 2023-07-11 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP

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.