Sugi Variant

Sugi Variant/TBC1D32

TBC1D32 — 327 ClinVar variants

All ClinVar germline TBC1D32 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Conflicting · 37 Benign · 3 Benign/Likely benign · 63 Likely benign · 202 Uncertain significance

Full TBC1D32 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 182

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 2

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

Predictors lean, ClinVar uncertain 152

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 152

Predictors split 28

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

All TBC1D32 variants

Pathogenic 12

Pathogenic/Likely pathogenic 1

  • p.Arg734Ter Multiple submitters orofaciodigital syndrome IX

Likely pathogenic 6

  • c.1372+1G>T Single submitter orofaciodigital syndrome IX
  • c.2482-2A>G Single submitter Inborn genetic diseases
  • p.Arg1242Ter Single submitter Joubert syndrome 36
  • p.Glu849Ter Single submitter TBC1D32-related disorder
  • p.Leu592fs Single submitter orofaciodigital syndrome IX
  • p.Asn517fs No assertion criteria isolated optic nerve hypoplasia

Conflicting classifications of pathogenicity 3

Benign 37

Benign/Likely benign 3

Likely benign 63

Uncertain significance 202