Sugi Variant

Sugi Variant/TOP3A

TOP3A — 470 ClinVar variants

All ClinVar germline TOP3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 15 Conflicting · 21 Benign · 10 Benign/Likely benign · 190 Likely benign · 197 Uncertain significance

Full TOP3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 133

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

Predictors split 43

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

All TOP3A variants

Pathogenic 19

Pathogenic/Likely pathogenic 3

  • p.Arg135Ter Multiple submitters TOP3A-related disorder
  • p.Arg177Ter Multiple submitters TOP3A-related disorder
  • p.Arg338Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 15

Conflicting classifications of pathogenicity 15

Benign 21

Benign/Likely benign 10

Likely benign 190

Uncertain significance 197