Sugi Variant

Sugi Variant/SPTBN2

SPTBN2 — 1428 ClinVar variants

All ClinVar germline SPTBN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 744 flagged for review →

24 Pathogenic · 5 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 157 Conflicting · 57 Benign · 81 Benign/Likely benign · 365 Likely benign · 705 Uncertain significance

Full SPTBN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 744

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 2

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

Predictors agree, ClinVar conflicts 104

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

Predictors lean, ClinVar uncertain 455

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 455

Predictors split 183

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 183

All SPTBN2 variants

Pathogenic 24

Pathogenic/Likely pathogenic 5

  • p.Arg437Gln Multiple submitters spinocerebellar ataxia type 5
  • p.Arg437Trp Multiple submitters spinocerebellar ataxia type 5
  • p.Glu1997fs Multiple submitters autosomal recessive spinocerebellar ataxia 14
  • p.Glu421del Multiple submitters spinocerebellar ataxia type 5
  • p.Ile1878fs Multiple submitters

Likely pathogenic 34

Conflicting classifications of pathogenicity 157

Benign 57

Benign/Likely benign 81

Likely benign 365

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 705

Showing the top 300 by review status; the full set is in the sitemap.