Sugi Variant

Sugi Variant/AAAS

AAAS — 541 ClinVar variants

All ClinVar germline AAAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

55 Pathogenic · 16 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 11 Conflicting · 20 Benign · 8 Benign/Likely benign · 262 Likely benign · 137 Uncertain significance

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

⚑ Evidence disagreements 128

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 4

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 39

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

All AAAS variants

Pathogenic 55

Pathogenic/Likely pathogenic 16

Likely pathogenic 32

Conflicting classifications of pathogenicity 11

Benign 20

Benign/Likely benign 8

Likely benign 262

Uncertain significance 137