Sugi Variant

Sugi Variant/DGKE

DGKE — 341 ClinVar variants

All ClinVar germline DGKE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

28 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 8 Conflicting · 29 Benign · 7 Benign/Likely benign · 108 Likely benign · 144 Uncertain significance

Full DGKE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 96

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All DGKE variants

Pathogenic 28

  • c.889-1G>A Multiple submitters immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Gln143Ter Multiple submitters atypical hemolytic-uremic syndrome
  • p.Thr204fs Multiple submitters atypical hemolytic-uremic syndrome
  • p.Trp322Ter Multiple submitters DGKE-related disorders
  • c.1524+2T>C Single submitter atypical hemolytic-uremic syndrome
  • c.888+1G>C Single submitter
  • c.888+40A>G Single submitter atypical hemolytic-uremic syndrome
  • c.889-2A>G Single submitter membranoproliferative glomerulonephritis
  • p.Arg337Ter Single submitter atypical hemolytic-uremic syndrome
  • p.Asn371fs Single submitter
  • p.Asp315fs Single submitter
  • p.Cys145fs Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Cys167Trp Single submitter atypical hemolytic-uremic syndrome
  • p.Gln43Ter Single submitter membranoproliferative glomerulonephritis
  • p.Gln48fs Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Glu110Ter Single submitter
  • p.Glu181Ter Single submitter
  • p.Gly130Asp Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Ile187fs Single submitter atypical hemolytic-uremic syndrome
  • p.Ile23fs Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Lys101Ter Single submitter atypical hemolytic-uremic syndrome
  • p.Lys150fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
  • p.Pro188fs Single submitter
  • p.Ser58fs Single submitter atypical hemolytic-uremic syndrome
  • p.Tyr73Ter Single submitter
  • p.Val163fs Single submitter atypical hemolytic-uremic syndrome
  • c.1099-2A>T No assertion criteria immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Trp459Ter No assertion criteria immunoglobulin-mediated membranoproliferative glomerulonephritis

Pathogenic/Likely pathogenic 2

  • c.465-2A>G Multiple submitters atypical hemolytic-uremic syndrome
  • p.Asn356fs Multiple submitters atypical hemolytic-uremic syndrome

Likely pathogenic 15

  • p.Val482fs Multiple submitters DGKE-related disorder
  • c.624+1G>T Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Arg155Gly Single submitter atypical hemolytic-uremic syndrome
  • p.Arg63Pro Single submitter atypical hemolytic-uremic syndrome
  • p.Asn131Lys Single submitter atypical hemolytic-uremic syndrome
  • p.Cys138Tyr Single submitter atypical hemolytic-uremic syndrome
  • p.Cys415_Leu416insTer Single submitter Susceptibility to severe COVID-19
  • p.Gln197Ter Single submitter DGKE-related disorders
  • p.Gln353fs Single submitter
  • p.Gly281Glu Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.His536fs Single submitter atypical hemolytic-uremic syndrome
  • p.Pro498Arg Single submitter atypical hemolytic-uremic syndrome
  • p.Val252fs Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Arg390His No assertion criteria immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.His60Asp No assertion criteria immunoglobulin-mediated membranoproliferative glomerulonephritis

Conflicting classifications of pathogenicity 8

  • c.465-3C>T Single submitter
  • p.Ala333= Single submitter atypical hemolytic-uremic syndrome
  • p.Ala405= Single submitter
  • p.Asn314Lys Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1 ⚠
  • p.Cys87Arg Single submitter immunoglobulin-mediated membranoproliferative glomerulonephritis ⚠
  • p.Gln560Arg Single submitter membranoproliferative glomerulonephritis ⚠
  • p.Ile449= Single submitter kidney disorder
  • p.Pro12Leu Single submitter membranoproliferative glomerulonephritis ⚠

Benign 29

Benign/Likely benign 7

  • c.744+17del Multiple submitters
  • p.Asn448= Multiple submitters
  • p.Cys75= Multiple submitters
  • p.Gln43= Multiple submitters immunoglobulin-mediated membranoproliferative glomerulonephritis
  • p.Gly20Glu Multiple submitters kidney disorder
  • p.Leu266= Multiple submitters atypical hemolytic-uremic syndrome
  • p.Val480= Multiple submitters immunoglobulin-mediated membranoproliferative glomerulonephritis

Likely benign 108

Uncertain significance 144