Sugi Variant

Sugi Variant/EPO

EPO — 58 ClinVar variants

All ClinVar germline EPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

3 Pathogenic · 1 Conflicting · 9 Benign · 2 Benign/Likely benign · 13 Likely benign · 30 Uncertain significance

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

⚑ Evidence disagreements 30

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 1

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

Predictors lean, ClinVar uncertain 18

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

Predictors split 10

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

All EPO variants

Pathogenic 3

  • p.Arg177Gln No assertion criteria Diamond-Blackfan anemia-like ⚠
  • p.Pro7fs No assertion criteria erythrocytosis, familial, 5
  • p.Trp11fs No assertion criteria erythrocytosis, familial, 5

Conflicting classifications of pathogenicity 1

Benign 9

Benign/Likely benign 2

Likely benign 13

Uncertain significance 30