Sugi Variant

Sugi Variant/PIGP

PIGP — 138 ClinVar variants

All ClinVar germline PIGP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

2 Pathogenic/Likely pathogenic · 2 Conflicting · 8 Benign · 2 Benign/Likely benign · 52 Likely benign · 72 Uncertain significance

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

⚑ Evidence disagreements 56

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 1

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

Predictors lean, ClinVar uncertain 42

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

Predictors split 13

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

All PIGP variants

Pathogenic/Likely pathogenic 2

  • p.Glu129fs Multiple submitters developmental and epileptic encephalopathy, 55
  • p.Met1Thr Multiple submitters developmental and epileptic encephalopathy, 55

Conflicting classifications of pathogenicity 2

Benign 8

Benign/Likely benign 2

Likely benign 52

Uncertain significance 72