Sugi Variant

Sugi Variant/CD59

CD59 — 106 ClinVar variants

All ClinVar germline CD59 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →

4 Pathogenic · 7 Likely pathogenic · 1 Conflicting · 2 Benign · 3 Benign/Likely benign · 56 Likely benign · 33 Uncertain significance

Full CD59 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 32

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 1

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

Predictors lean, ClinVar uncertain 19

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

Predictors split 12

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

All CD59 variants

Pathogenic 4

  • p.Asp49Val Single submitter primary CD59 deficiency
  • p.Cys89Tyr Single submitter primary CD59 deficiency
  • p.Asp49fs No assertion criteria primary CD59 deficiency
  • p.Val42fs No assertion criteria primary CD59 deficiency

Likely pathogenic 7

Conflicting classifications of pathogenicity 1

Benign 2

Benign/Likely benign 3

Likely benign 56

Uncertain significance 33