Sugi Variant

Sugi Variant/WNT4

WNT4 — 165 ClinVar variants

All ClinVar germline WNT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

5 Pathogenic · 3 Conflicting · 10 Benign · 2 Benign/Likely benign · 49 Likely benign · 96 Uncertain significance

Full WNT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 2

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

Predictors lean, ClinVar uncertain 67

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

Predictors split 14

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

All WNT4 variants

Pathogenic 5

  • p.Ala114Val No assertion criteria SERKAL syndrome
  • p.Arg83Trp No assertion criteria mullerian aplasia and hyperandrogenism
  • p.Glu216Gly No assertion criteria mullerian aplasia and hyperandrogenism ⚠
  • p.Leu12Pro No assertion criteria mullerian aplasia and hyperandrogenism ⚠
  • p.Thr291Arg No assertion criteria SERKAL syndrome

Conflicting classifications of pathogenicity 3

  • p.Ala233Thr Single submitter mullerian aplasia and hyperandrogenism ⚠
  • p.Arg292Thr Single submitter SERKAL syndrome ⚠
  • p.His209= Single submitter mullerian aplasia and hyperandrogenism

Benign 10

Benign/Likely benign 2

  • p.Ile303= Multiple submitters SERKAL syndrome
  • p.Tyr161= Multiple submitters SERKAL syndrome

Likely benign 49

Uncertain significance 96