Sugi Variant

Sugi Variant/CTSA

CTSA — 582 ClinVar variants

All ClinVar germline CTSA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

36 Pathogenic · 16 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 17 Conflicting · 21 Benign · 7 Benign/Likely benign · 286 Likely benign · 176 Uncertain significance

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

⚑ Evidence disagreements 147

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 5

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 66

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

All CTSA variants

Pathogenic 36

Pathogenic/Likely pathogenic 16

Likely pathogenic 23

Conflicting classifications of pathogenicity 17

Benign 21

Benign/Likely benign 7

Likely benign 286

Uncertain significance 176