Sugi Variant

Sugi Variant/TGFB3

TGFB3 — 738 ClinVar variants

All ClinVar germline TGFB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 339 flagged for review →

38 Pathogenic · 9 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 39 Conflicting · 13 Benign · 19 Benign/Likely benign · 227 Likely benign · 363 Uncertain significance

Full TGFB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 339

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 24

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 231

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 231

Predictors split 83

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

All TGFB3 variants

Pathogenic 38

Pathogenic/Likely pathogenic 9

  • p.Arg148Ter Multiple submitters TGFB3-related disorder
  • p.Arg300Trp Multiple submitters TGFB3-related disorder
  • p.Arg325Ter Multiple submitters Rienhoff syndrome
  • p.Gln293fs Multiple submitters Rienhoff syndrome
  • p.Gln296fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu368fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys298fs Multiple submitters Rienhoff syndrome
  • p.Lys37Ter Multiple submitters Rienhoff syndrome
  • p.Ser345Ter Multiple submitters Developmental disorder

Likely pathogenic 30

Conflicting classifications of pathogenicity 39

Benign 13

Benign/Likely benign 19

  • c.1081-14A>G Multiple submitters Rienhoff syndrome
  • c.517-16T>C Multiple submitters Rienhoff syndrome
  • c.647-12C>G Multiple submitters Rienhoff syndrome
  • c.927-20A>G Multiple submitters Rienhoff syndrome
  • c.-614C>T Multiple submitters
  • c.*482del Multiple submitters
  • c.*9G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala13= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg266= Multiple submitters Rienhoff syndrome
  • p.Cys307= Multiple submitters Rienhoff syndrome
  • p.His117= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile168= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile248= Multiple submitters Rienhoff syndrome
  • p.Leu12= Multiple submitters Rienhoff syndrome
  • p.Leu30= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe32= Multiple submitters Rienhoff syndrome
  • p.Pro291= Multiple submitters Rienhoff syndrome
  • p.Ser129= Multiple submitters Rienhoff syndrome
  • p.Thr96= Multiple submitters Rienhoff syndrome

Likely benign 227

Uncertain significance 363

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