Sugi Variant

Sugi Variant/PPA2

PPA2 — 401 ClinVar variants

All ClinVar germline PPA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

5 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 15 Conflicting · 51 Benign · 14 Benign/Likely benign · 168 Likely benign · 136 Uncertain significance

Full PPA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 119

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 5

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 77

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

Predictors split 31

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

All PPA2 variants

Pathogenic 5

Pathogenic/Likely pathogenic 4

Likely pathogenic 8

Conflicting classifications of pathogenicity 15

Benign 51

Benign/Likely benign 14

Likely benign 168

Uncertain significance 136