Sugi Variant

Sugi Variant/TGFB1

TGFB1 — 433 ClinVar variants

All ClinVar germline TGFB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 11 Conflicting · 20 Benign · 10 Benign/Likely benign · 136 Likely benign · 248 Uncertain significance

Full TGFB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 198

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 9

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

Predictors lean, ClinVar uncertain 151

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 151

Predictors split 37

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

All TGFB1 variants

Pathogenic 3

  • p.Arg218Cys Multiple submitters Camurati-Engelmann disease type 1
  • p.Cys223Arg No assertion criteria Camurati-Engelmann disease
  • p.Cys225Arg No assertion criteria Camurati-Engelmann disease ⚠

Pathogenic/Likely pathogenic 1

  • p.Arg218His Multiple submitters Camurati-Engelmann disease type 1 ⚠

Likely pathogenic 4

  • p.Tyr171Cys Multiple submitters Camurati-Engelmann disease
  • p.Asp191fs Single submitter inflammatory bowel disease, immunodeficiency, and encephalopathy
  • p.Cys387Arg Single submitter inflammatory bowel disease, immunodeficiency, and encephalopathy
  • p.Tyr299Ter Single submitter

Conflicting classifications of pathogenicity 11

Benign 20

Benign/Likely benign 10

Likely benign 136

Uncertain significance 248