Sugi Variant

Sugi Variant/GBA1

GBA1 — 666 ClinVar variants

All ClinVar germline GBA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →

73 Pathogenic · 37 Pathogenic/Likely pathogenic · 198 Likely pathogenic · 55 Conflicting · 5 Benign · 4 Benign/Likely benign · 53 Likely benign · 241 Uncertain significance

Full GBA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 274

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 28

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 133

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

Predictors split 85

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

All GBA1 variants

Pathogenic 73

Pathogenic/Likely pathogenic 37

Likely pathogenic 198

Conflicting classifications of pathogenicity 55

Benign 5

Benign/Likely benign 4

  • c.762-18T>A Multiple submitters Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  • p.Gly364= Multiple submitters Gaucher disease type I
  • p.Lys13Arg Multiple submitters Gaucher disease type I
  • p.Val499= Multiple submitters

Likely benign 53

Uncertain significance 241