Sugi Variant

Sugi Variant/OGT

OGT — 225 ClinVar variants

All ClinVar germline OGT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

5 Pathogenic · 11 Likely pathogenic · 3 Conflicting · 18 Benign · 2 Benign/Likely benign · 46 Likely benign · 140 Uncertain significance

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

⚑ Evidence disagreements 134

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 2

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 98

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

Predictors split 33

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

All OGT variants

Pathogenic 5

  • p.Asn648Tyr Single submitter intellectual disability, X-linked 106
  • c.463-6T>G No assertion criteria intellectual disability, X-linked 106
  • p.Arg284Pro No assertion criteria intellectual disability, X-linked 106
  • p.Glu339Gly No assertion criteria intellectual disability, X-linked 106
  • p.Leu254Phe No assertion criteria intellectual disability, X-linked 106

Likely pathogenic 11

Conflicting classifications of pathogenicity 3

  • p.Gly103Arg Single submitter intellectual disability, X-linked 106 ⚠
  • p.Gly375= Single submitter intellectual disability, X-linked 106
  • p.Ile782Val Single submitter intellectual disability, X-linked 106 ⚠

Benign 18

Benign/Likely benign 2

Likely benign 46

Uncertain significance 140