Sugi Variant

Sugi Variant/SERPINF1

SERPINF1 — 379 ClinVar variants

All ClinVar germline SERPINF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

29 Pathogenic · 5 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 26 Conflicting · 33 Benign · 8 Benign/Likely benign · 129 Likely benign · 128 Uncertain significance

Full SERPINF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 1

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 20

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

All SERPINF1 variants

Pathogenic 29

Pathogenic/Likely pathogenic 5

Likely pathogenic 21

Conflicting classifications of pathogenicity 26

Benign 33

Benign/Likely benign 8

  • c.439+82del Multiple submitters
  • c.440-28C>T Multiple submitters osteogenesis imperfecta type 6
  • c.643+8C>T Multiple submitters osteogenesis imperfecta type 6
  • c.-86C>A Multiple submitters osteogenesis imperfecta
  • p.Arg252= Multiple submitters osteogenesis imperfecta type 6
  • p.Gln185= Multiple submitters osteogenesis imperfecta type 6
  • p.Ile150Val Multiple submitters
  • p.Tyr253= Multiple submitters

Likely benign 129

Uncertain significance 128