ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)

gnomAD frequency: 0.00016  dbSNP: rs138924661
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Precision Medicine, Vanderbilt University Medical Center RCV000760165 SCV000889982 pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2018-03-16 criteria provided, single submitter research
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000760165 SCV001368100 pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2019-06-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2.
Invitae RCV001854681 SCV002234882 pathogenic not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp322*) 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). This variant is present in population databases (rs138924661, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with nephrotic syndrome and atypical hemolytic uremic syndrome (PMID: 23542698, 25135762, 25854283, 28496993). ClinVar contains an entry for this variant (Variation ID: 135641). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000122617 SCV002587670 pathogenic Atypical hemolytic-uremic syndrome 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000760165 SCV002810357 pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis 2022-04-07 criteria provided, single submitter clinical testing
OMIM RCV000043567 SCV000071437 risk factor Hemolytic uremic syndrome, atypical, susceptibility to, 7 2013-05-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122617 SCV000155124 probable-pathogenic Atypical hemolytic-uremic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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