Sugi Variant

Sugi Variant/SPARC

SPARC — 209 ClinVar variants

All ClinVar germline SPARC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

3 Pathogenic · 5 Conflicting · 20 Benign · 1 Benign/Likely benign · 105 Likely benign · 75 Uncertain significance

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

⚑ Evidence disagreements 62

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 3

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

Predictors lean, ClinVar uncertain 39

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 SPARC variants

Pathogenic 3

  • c.57+1G>C Single submitter osteogenesis imperfecta type 17
  • p.Phe125fs Single submitter Inborn genetic diseases
  • p.Arg166His No assertion criteria osteogenesis imperfecta type 17

Conflicting classifications of pathogenicity 5

Benign 20

Benign/Likely benign 1

Likely benign 105

Uncertain significance 75