Sugi Variant

Sugi Variant/STAT6

STAT6 — 123 ClinVar variants

All ClinVar germline STAT6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 12 Likely benign · 99 Uncertain significance

Full STAT6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 1

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 12

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

All STAT6 variants

Pathogenic 5

  • p.Asp419Gly No assertion criteria hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • p.Asp419Tyr No assertion criteria hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • p.Asp519His No assertion criteria hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • p.Glu372Lys No assertion criteria hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
  • p.Glu382Gln No assertion criteria hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

Likely pathogenic 1

  • p.Asp419His Single submitter hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

Conflicting classifications of pathogenicity 1

Benign 4

Benign/Likely benign 1

Likely benign 12

Uncertain significance 99