Sugi Variant

Sugi Variant/ARR3

ARR3 — 75 ClinVar variants

All ClinVar germline ARR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 4 Conflicting · 4 Benign · 14 Likely benign · 42 Uncertain significance

Full ARR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 47

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 lean, ClinVar uncertain 20

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

Predictors split 26

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

All ARR3 variants

Pathogenic 8

  • c.905+2del Single submitter myopia 26, X-linked, female-limited
  • p.Arg72Ter Single submitter ARR3-related disorder
  • p.Glu65Ter Single submitter
  • p.Leu275fs Single submitter Inborn genetic diseases
  • p.Met1Val Single submitter
  • p.Ala298Asp No assertion criteria myopia 26, X-linked, female-limited
  • p.Arg100Ter No assertion criteria myopia 26, X-linked, female-limited
  • p.Leu80Pro No assertion criteria myopia 26, X-linked, female-limited ⚠

Pathogenic/Likely pathogenic 1

  • c.767+1G>A Multiple submitters myopia 26, X-linked, female-limited

Likely pathogenic 2

  • p.Gly306fs No assertion criteria ARR3-related disorder
  • p.Tyr110Ter No assertion criteria ARR3-related disorder

Conflicting classifications of pathogenicity 4

Benign 4

Likely benign 14

Uncertain significance 42