Sugi Variant

Sugi Variant/PITX3

PITX3 — 95 ClinVar variants

All ClinVar germline PITX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 4 Benign · 21 Likely benign · 60 Uncertain significance

Full PITX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 53

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 1

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 13

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

All PITX3 variants

Pathogenic 3

Pathogenic/Likely pathogenic 2

  • p.Ala214fs Multiple submitters PITX3-related disorder
  • p.Tyr254Ter Multiple submitters cataract 11 multiple types

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

Benign 4

Likely benign 21

Uncertain significance 60