Sugi Variant

Sugi Variant/RAX

RAX — 182 ClinVar variants

All ClinVar germline RAX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

6 Pathogenic · 4 Likely pathogenic · 6 Conflicting · 12 Benign · 4 Benign/Likely benign · 34 Likely benign · 116 Uncertain significance

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

⚑ Evidence disagreements 69

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 1

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 10

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

All RAX variants

Pathogenic 6

  • p.Glu167Ter Single submitter
  • p.Arg187Gln No assertion criteria isolated microphthalmia 3
  • p.Arg192Gln No assertion criteria isolated microphthalmia 3
  • p.Gln147Ter No assertion criteria isolated microphthalmia 3
  • p.Pro89fs No assertion criteria isolated microphthalmia 3
  • p.Tyr303Ter No assertion criteria isolated microphthalmia 3

Likely pathogenic 4

Conflicting classifications of pathogenicity 6

  • c.290-4C>A Single submitter isolated microphthalmia 3
  • c.544-11C>G Single submitter isolated microphthalmia 3
  • c.-94G>A Single submitter isolated microphthalmia 3
  • p.Arg66Thr Single submitter isolated microphthalmia 3 ⚠
  • p.Leu204= Single submitter isolated microphthalmia 3
  • p.Pro8= Single submitter isolated microphthalmia 3

Benign 12

Benign/Likely benign 4

  • c.289+8C>G Multiple submitters isolated microphthalmia 3
  • c.*236C>T Multiple submitters isolated microphthalmia 3
  • c.*291C>T Multiple submitters isolated microphthalmia 3
  • p.Thr50Pro Multiple submitters isolated microphthalmia 3

Likely benign 34

Uncertain significance 116