Sugi Variant

Sugi Variant/PRRX1

PRRX1 — 50 ClinVar variants

All ClinVar germline PRRX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 11 Likely benign · 29 Uncertain significance

Full PRRX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 25

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 17

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

Predictors split 8

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

All PRRX1 variants

Pathogenic 5

  • p.Arg124Ter Single submitter craniosynostosis
  • p.Ala231Pro No assertion criteria agnathia-otocephaly complex
  • p.Arg92fs No assertion criteria agnathia-otocephaly complex
  • p.Lys90fs No assertion criteria agnathia-otocephaly complex
  • p.Phe113Ser No assertion criteria agnathia-otocephaly complex

Likely pathogenic 1

  • p.Leu106Pro No assertion criteria agnathia-otocephaly complex

Benign 3

Benign/Likely benign 1

Likely benign 11

Uncertain significance 29