Sugi Variant

Sugi Variant/CYB5R3

CYB5R3 — 271 ClinVar variants

All ClinVar germline CYB5R3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

21 Pathogenic · 5 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 13 Conflicting · 38 Benign · 4 Benign/Likely benign · 65 Likely benign · 116 Uncertain significance

Full CYB5R3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 54

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

Predictors split 61

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

All CYB5R3 variants

Pathogenic 21

  • p.Arg160Ter Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Arg58Pro Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Arg84Ter Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Trp236Ter Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • c.226+2T>C Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Gln135Ter Single submitter
  • p.Gln77Ter Single submitter
  • p.Gly76Ser Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Ser82fs Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Trp236fs Single submitter
  • c.463+8G>C No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • c.734-1G>T No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Arg219Ter No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Cys204Arg No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Cys204Tyr No assertion criteria METHEMOGLOBINEMIA, TYPE I
  • p.Leu149Pro No assertion criteria METHEMOGLOBINEMIA, TYPE I
  • p.Leu64Val No assertion criteria METHEMOGLOBINEMIA, TYPE I
  • p.Met273del No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Phe299del No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Ser128Pro No assertion criteria METHEMOGLOBINEMIA, TYPE II
  • p.Thr35Pro No assertion criteria METHEMOGLOBINEMIA, TYPE I

Pathogenic/Likely pathogenic 5

  • c.464-2A>C Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Ala179Thr Multiple submitters
  • p.Arg192Cys Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Gly292Asp Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Val253Met Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase

Likely pathogenic 9

  • c.547+1G>A Multiple submitters methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Ala179Pro Multiple submitters
  • p.Arg58Gln Multiple submitters ⚠
  • p.Arg92Trp Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Glu256del Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Gly144Asp Single submitter
  • p.Met127Val Single submitter
  • p.Pro278fs Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Arg170Gly No assertion criteria ⚠

Conflicting classifications of pathogenicity 13

  • c.334-15G>A Single submitter
  • c.463+8G>A Single submitter methemoglobinemia due to deficiency of methemoglobin reductase
  • p.Ala158Thr Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Arg297His Single submitter Neurodevelopmental delay ⚠
  • p.Arg50Gln Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Arg61His Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Asp240Gly Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Asp49His Single submitter Inborn genetic diseases ⚠
  • p.Glu213Lys Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Gly144Val Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Pro145Leu Single submitter ⚠
  • p.Pro269Leu Single submitter methemoglobinemia due to deficiency of methemoglobin reductase ⚠
  • p.Ser146Gly Single submitter Inborn genetic diseases ⚠

Benign 38

Benign/Likely benign 4

Likely benign 65

Uncertain significance 116