Sugi Variant

Sugi Variant/CYCS

CYCS — 50 ClinVar variants

All ClinVar germline CYCS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 1 Benign · 18 Likely benign · 23 Uncertain significance

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

⚑ Evidence disagreements 23

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 2

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

Predictors lean, ClinVar uncertain 8

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

Predictors split 13

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

All CYCS variants

Pathogenic 2

  • p.Lys101del No assertion criteria thrombocytopenia 4
  • p.Tyr49His No assertion criteria thrombocytopenia 4

Pathogenic/Likely pathogenic 1

  • p.His27Tyr Multiple submitters thrombocytopenia 4

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

Benign 1

  • c.-6T>G Multiple submitters thrombocytopenia 4

Likely benign 18

Uncertain significance 23