Sugi Variant

Sugi Variant/PPIB

PPIB — 194 ClinVar variants

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

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 6 Conflicting · 9 Benign · 6 Benign/Likely benign · 67 Likely benign · 85 Uncertain significance

Full PPIB 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 vs ClinVar 2

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

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 48

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 PPIB variants

Pathogenic 8

Pathogenic/Likely pathogenic 2

Likely pathogenic 11

Conflicting classifications of pathogenicity 6

  • c.249+12G>A Single submitter osteogenesis imperfecta type 9
  • c.528+14G>A Single submitter osteogenesis imperfecta type 9
  • c.-9C>G Single submitter osteogenesis imperfecta
  • p.Arg190Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn148= Single submitter osteogenesis imperfecta type 9
  • p.Ile199= Single submitter osteogenesis imperfecta type 9

Benign 9

Benign/Likely benign 6

Likely benign 67

Uncertain significance 85