Sugi Variant

Sugi Variant/PIGB

PIGB — 372 ClinVar variants

All ClinVar germline PIGB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

18 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 10 Conflicting · 11 Benign · 7 Benign/Likely benign · 165 Likely benign · 152 Uncertain significance

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

⚑ Evidence disagreements 123

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 5

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 23

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

All PIGB variants

Pathogenic 18

Pathogenic/Likely pathogenic 1

  • p.Ile537Met Multiple submitters developmental and epileptic encephalopathy, 80 ⚠

Likely pathogenic 8

Conflicting classifications of pathogenicity 10

Benign 11

Benign/Likely benign 7

Likely benign 165

Uncertain significance 152