Sugi Variant

Sugi Variant/EPOR

EPOR — 165 ClinVar variants

All ClinVar germline EPOR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 9 Conflicting · 25 Benign · 7 Benign/Likely benign · 25 Likely benign · 94 Uncertain significance

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

⚑ Evidence disagreements 87

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 5

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 29

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

All EPOR variants

Pathogenic 2

  • p.Trp439Ter Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Glu399Ter Single submitter

Likely pathogenic 3

  • p.His161fs Single submitter
  • p.Pro447fs Single submitter primary familial polycythemia due to EPO receptor mutation
  • p.Trp317Ter No assertion criteria primary familial polycythemia due to EPO receptor mutation

Conflicting classifications of pathogenicity 9

  • p.Ala99Val Single submitter primary familial polycythemia due to EPO receptor mutation ⚠
  • p.Arg437His Single submitter primary familial polycythemia due to EPO receptor mutation ⚠
  • p.Gln434Ter Single submitter
  • p.Gln82Ter Single submitter
  • p.Glu204Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu480Ser Single submitter primary familial polycythemia due to EPO receptor mutation ⚠
  • p.Pro380Leu Single submitter primary familial polycythemia due to EPO receptor mutation ⚠
  • p.Pro502Arg Single submitter primary familial polycythemia due to EPO receptor mutation ⚠
  • p.Val72Ala Single submitter primary familial polycythemia due to EPO receptor mutation ⚠

Benign 25

  • c.-55G>A Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • c.*35G>A Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Ala219= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Arg56= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Asp146= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Gly46Glu Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Pro380Ala Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Thr466= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • c.251+7C>A Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.252-17C>T Single submitter
  • c.252-257del Single submitter
  • c.252-261A>T Single submitter
  • c.252-275dup Single submitter
  • c.586-20C>G Single submitter
  • c.*32T>C Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.*425C>T Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.*504G>A Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.*577A>G Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.*670G>A Single submitter primary familial polycythemia due to EPO receptor mutation
  • c.*684C>A Single submitter primary familial polycythemia due to EPO receptor mutation
  • p.Ala190Ser Single submitter primary familial polycythemia due to EPO receptor mutation
  • p.Ala476Val Single submitter primary familial polycythemia due to EPO receptor mutation
  • p.Asp482= Single submitter
  • p.Pro447= Single submitter
  • p.Thr267= Single submitter

Benign/Likely benign 7

  • c.115+7A>G Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Ala186= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Asn487Ser Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Leu199= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Leu8= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Pro347= Multiple submitters primary familial polycythemia due to EPO receptor mutation
  • p.Pro488Ser Multiple submitters primary familial polycythemia due to EPO receptor mutation

Likely benign 25

Uncertain significance 94