Sugi Variant

Sugi Variant/IDH3B

IDH3B — 396 ClinVar variants

All ClinVar germline IDH3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

4 Pathogenic · 5 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 30 Conflicting · 12 Benign · 3 Benign/Likely benign · 142 Likely benign · 187 Uncertain significance

Full IDH3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 6

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

Predictors lean, ClinVar uncertain 112

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 IDH3B variants

Pathogenic 4

Pathogenic/Likely pathogenic 5

  • p.Arg164Ter Multiple submitters IDH3B-related disorders
  • p.Arg191Ter Multiple submitters IDH3B-related disorders
  • p.Gln39Ter Multiple submitters IDH3B-related disorders
  • p.Glu184fs Multiple submitters retinitis pigmentosa 46
  • p.Glu62Ter Multiple submitters IDH3B-related disorders

Likely pathogenic 13

Conflicting classifications of pathogenicity 30

Benign 12

Benign/Likely benign 3

Likely benign 142

Uncertain significance 187