Sugi Variant

Sugi Variant/PIGH

PIGH — 35 ClinVar variants

All ClinVar germline PIGH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 3 Likely benign · 24 Uncertain significance

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

⚑ Evidence disagreements 26

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 lean, ClinVar uncertain 19

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

Predictors split 7

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

All PIGH variants

Pathogenic 1

  • p.Met1Leu No assertion criteria glycosylphosphatidylinositol biosynthesis defect 17

Pathogenic/Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 4

  • c.180+6G>A Single submitter
  • p.Ile92= No assertion criteria PIGH-related disorder
  • p.Pro24= No assertion criteria PIGH-related disorder
  • p.Thr47= No assertion criteria PIGH-related disorder

Benign/Likely benign 1

Likely benign 3

Uncertain significance 24