Sugi Variant

Sugi Variant/STAT4

STAT4 — 512 ClinVar variants

All ClinVar germline STAT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 6 Conflicting · 20 Benign · 5 Benign/Likely benign · 250 Likely benign · 229 Uncertain significance

Full STAT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 191

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 4

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

Predictors lean, ClinVar uncertain 146

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

Predictors split 40

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

All STAT4 variants

Pathogenic 1

  • p.His623Tyr No assertion criteria disabling pansclerotic morphea of childhood ⚠

Likely pathogenic 1

  • p.Ala635Val Single submitter disabling pansclerotic morphea of childhood ⚠

Conflicting classifications of pathogenicity 6

Benign 20

Benign/Likely benign 5

Likely benign 250

Uncertain significance 229