Sugi Variant

Sugi Variant/UGGT1

UGGT1 — 211 ClinVar variants

All ClinVar germline UGGT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 10 Benign · 2 Benign/Likely benign · 9 Likely benign · 181 Uncertain significance

Full UGGT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

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 1

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

Predictors lean, ClinVar uncertain 129

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

Predictors split 42

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

All UGGT1 variants

Pathogenic 8

  • p.Ala711Val No assertion criteria congenital disorder of glycosylation, type IIcc ⚠
  • p.Arg1272His No assertion criteria congenital disorder of glycosylation, type IIcc
  • p.Asp390_Gly397del No assertion criteria congenital disorder of glycosylation, type IIcc
  • p.Gln1155Arg No assertion criteria congenital disorder of glycosylation, type IIcc
  • p.Lys251fs No assertion criteria hypercholesterolemia, familial, 1
  • p.Phe723Ser No assertion criteria congenital disorder of glycosylation, type IIcc
  • p.Ser126_Tyr127insTer No assertion criteria congenital disorder of glycosylation, type IIcc
  • p.Ser327fs No assertion criteria congenital disorder of glycosylation, type IIcc

Likely pathogenic 1

  • p.Gln73fs Single submitter congenital disorder of glycosylation, type IIcc

Benign 10

Benign/Likely benign 2

Likely benign 9

Uncertain significance 181