Sugi Variant

Sugi Variant/SUZ12

SUZ12 — 213 ClinVar variants

All ClinVar germline SUZ12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

15 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 2 Conflicting · 4 Benign · 3 Benign/Likely benign · 43 Likely benign · 122 Uncertain significance

Full SUZ12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 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 32

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

All SUZ12 variants

Pathogenic 15

Pathogenic/Likely pathogenic 5

  • c.1023+1G>C Multiple submitters SUZ12-related disorder
  • p.Arg121Ter Multiple submitters Imagawa-Matsumoto syndrome
  • p.Arg286Ter Multiple submitters Inborn genetic diseases
  • p.Arg535Ter Multiple submitters SUZ12-related disorder
  • p.Leu385fs Multiple submitters acute megakaryoblastic leukemia in down syndrome

Likely pathogenic 19

Conflicting classifications of pathogenicity 2

Benign 4

Benign/Likely benign 3

  • c.274+8T>C Multiple submitters Imagawa-Matsumoto syndrome
  • p.Ser59del Multiple submitters
  • p.Tyr557= Multiple submitters Imagawa-Matsumoto syndrome

Likely benign 43

Uncertain significance 122