Sugi Variant

Sugi Variant/SP7

SP7 — 200 ClinVar variants

All ClinVar germline SP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 5 Conflicting · 7 Benign · 5 Benign/Likely benign · 64 Likely benign · 116 Uncertain significance

Full SP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 107

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 84

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

Predictors split 22

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

All SP7 variants

Pathogenic 1

  • p.Glu351fs No assertion criteria osteogenesis imperfecta type 12

Likely pathogenic 2

  • p.Cys270Ter Single submitter osteogenesis imperfecta type 12
  • p.Asp120fs No assertion criteria osteogenesis imperfecta type 12

Conflicting classifications of pathogenicity 5

Benign 7

Benign/Likely benign 5

Likely benign 64

Uncertain significance 116