Sugi Variant

Sugi Variant/MPO

MPO — 101 ClinVar variants

All ClinVar germline MPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 6 Conflicting · 2 Benign · 1 Benign/Likely benign · 22 Likely benign · 62 Uncertain significance

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

⚑ Evidence disagreements 58

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 4

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

Predictors lean, ClinVar uncertain 43

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

Predictors split 11

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

All MPO variants

Pathogenic 1

  • p.Leu209fs Single submitter myeloperoxidase deficiency

Pathogenic/Likely pathogenic 2

Likely pathogenic 5

Conflicting classifications of pathogenicity 6

Benign 2

Benign/Likely benign 1

  • p.Asn729= Multiple submitters myeloperoxidase deficiency

Likely benign 22

Uncertain significance 62