Sugi Variant

Sugi Variant/PIGL

PIGL — 151 ClinVar variants

All ClinVar germline PIGL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 11 Conflicting · 10 Benign · 2 Benign/Likely benign · 36 Likely benign · 70 Uncertain significance

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

⚑ Evidence disagreements 58

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 agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 14

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

All PIGL variants

Pathogenic 10

Pathogenic/Likely pathogenic 1

Likely pathogenic 11

Conflicting classifications of pathogenicity 11

Benign 10

Benign/Likely benign 2

  • c.*254T>C Multiple submitters CHIME syndrome
  • c.*86A>G Multiple submitters CHIME syndrome

Likely benign 36

Uncertain significance 70