Sugi Variant

Sugi Variant/TP73

TP73 — 124 ClinVar variants

All ClinVar germline TP73 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 10 Benign · 3 Benign/Likely benign · 20 Likely benign · 86 Uncertain significance

Full TP73 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 lean, ClinVar uncertain 55

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

Predictors split 25

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

All TP73 variants

Pathogenic 4

  • c.1196+1G>A Single submitter ciliary dyskinesia, primary, 47, and lissencephaly
  • p.Glu205Ter Single submitter ciliary dyskinesia, primary, 47, and lissencephaly
  • p.Gln332Ter No assertion criteria ciliary dyskinesia, primary, 47, and lissencephaly
  • p.Tyr487fs No assertion criteria ciliary dyskinesia, primary, 47, and lissencephaly

Likely pathogenic 1

  • p.Tyr152fs Single submitter ciliary dyskinesia, primary, 47, and lissencephaly

Benign 10

  • p.Ala325Thr Multiple submitters
  • p.Gln391= Multiple submitters
  • p.Ser563= Multiple submitters
  • p.Val245= Multiple submitters
  • c.186+7G>A Single submitter
  • c.985+15A>G Single submitter ciliary dyskinesia, primary, 47, and lissencephaly
  • c.-20C>T Single submitter ciliary dyskinesia, primary, 47, and lissencephaly
  • p.Thr173= Single submitter ciliary dyskinesia, primary, 47, and lissencephaly
  • p.Ala336= No assertion criteria TP73-related disorder
  • p.His349= No assertion criteria TP73-related disorder

Benign/Likely benign 3

Likely benign 20

Uncertain significance 86