Sugi Variant

Sugi Variant/AASS

AASS — 289 ClinVar variants

All ClinVar germline AASS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 3 Conflicting · 32 Benign · 1 Benign/Likely benign · 73 Likely benign · 157 Uncertain significance

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

⚑ Evidence disagreements 160

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 1

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

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 73

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

Predictors split 85

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

All AASS variants

Pathogenic 9

Pathogenic/Likely pathogenic 2

Likely pathogenic 12

Conflicting classifications of pathogenicity 3

Benign 32

Benign/Likely benign 1

Likely benign 73

Uncertain significance 157