ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.610dup (p.Thr204fs)

dbSNP: rs147972030
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294380 SCV002587691 pathogenic Atypical hemolytic-uremic syndrome 2022-07-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000786909 SCV002776671 pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2022-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558591 SCV004297488 pathogenic not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr204Asnfs*4) in the DGKE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DGKE are known to be pathogenic (PMID: 23274426, 23542698). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with DGKE-related conditions (PMID: 25443527, 28526779). This variant is also known as c.790_791insA. ClinVar contains an entry for this variant (Variation ID: 635454). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786909 SCV000925810 pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2018-12-03 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.