Sugi Variant

Sugi Variant/GBA2

GBA2 — 413 ClinVar variants

All ClinVar germline GBA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

26 Pathogenic · 4 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 35 Conflicting · 19 Benign · 4 Benign/Likely benign · 123 Likely benign · 182 Uncertain significance

Full GBA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 22

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 31

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

All GBA2 variants

Pathogenic 26

Pathogenic/Likely pathogenic 4

  • p.Arg630Trp Multiple submitters GBA2-related disorders
  • p.Arg873His Multiple submitters GBA2-related disorders
  • p.Glu454fs Multiple submitters hereditary spastic paraplegia 46
  • p.Tyr735fs Multiple submitters GBA2-related disorders

Likely pathogenic 20

Conflicting classifications of pathogenicity 35

Benign 19

Benign/Likely benign 4

  • p.Asn789= Multiple submitters Spastic paraplegia
  • p.Pro465= Multiple submitters Spastic paraplegia
  • p.Thr346Met Multiple submitters hereditary spastic paraplegia
  • p.Thr382= Multiple submitters Spastic paraplegia

Likely benign 123

Uncertain significance 182