Sugi Variant

Sugi Variant/UGDH

UGDH — 99 ClinVar variants

All ClinVar germline UGDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

2 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 2 Conflicting · 1 Benign · 1 Benign/Likely benign · 12 Likely benign · 57 Uncertain significance

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

⚑ Evidence disagreements 61

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 vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 39

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

Predictors split 15

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

All UGDH variants

Pathogenic 2

  • p.Arg65Ter Multiple submitters developmental and epileptic encephalopathy, 84
  • p.Asp424fs Single submitter Inborn genetic diseases

Pathogenic/Likely pathogenic 5

  • p.Ala44Val Multiple submitters infantile spasms
  • p.Arg317Gln Multiple submitters developmental and epileptic encephalopathy, 84 ⚠
  • p.Ala82Thr No assertion criteria developmental and epileptic encephalopathy, 84
  • p.Ser72Ala No assertion criteria developmental and epileptic encephalopathy, 84
  • p.Tyr367Cys No assertion criteria developmental and epileptic encephalopathy, 84 ⚠

Likely pathogenic 19

  • p.Ala362Thr Single submitter developmental and epileptic encephalopathy, 84
  • p.Arg393Trp Single submitter developmental and epileptic encephalopathy, 84 ⚠
  • p.Asp176fs Single submitter developmental and epileptic encephalopathy, 84
  • p.Val248Leu Single submitter developmental and epileptic encephalopathy, 84 ⚠
  • p.Ala24Thr No assertion criteria Epileptic encephalopathy
  • p.Ala410Ser No assertion criteria Epileptic encephalopathy
  • p.Arg442Trp No assertion criteria Epileptic encephalopathy
  • p.Arg443His No assertion criteria Epileptic encephalopathy
  • p.Gln155Ter No assertion criteria Epileptic encephalopathy
  • p.Glu217Asp No assertion criteria Epileptic encephalopathy
  • p.Gly271Arg No assertion criteria Epileptic encephalopathy
  • p.His449Arg No assertion criteria Epileptic encephalopathy ⚠
  • p.Ile125Thr No assertion criteria Epileptic encephalopathy
  • p.Ile255Thr No assertion criteria Epileptic encephalopathy
  • p.Ile42Thr No assertion criteria Epileptic encephalopathy
  • p.Met306Val No assertion criteria Epileptic encephalopathy ⚠
  • p.Pro175Ala No assertion criteria Epileptic encephalopathy
  • p.Tyr356Ter No assertion criteria Epileptic encephalopathy
  • p.Val303Ile No assertion criteria Epileptic encephalopathy ⚠

Conflicting classifications of pathogenicity 2

Benign 1

Benign/Likely benign 1

Likely benign 12

Uncertain significance 57