Sugi Variant

Sugi Variant/RGR

RGR — 330 ClinVar variants

All ClinVar germline RGR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 15 Conflicting · 6 Benign · 2 Benign/Likely benign · 110 Likely benign · 195 Uncertain significance

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

⚑ Evidence disagreements 136

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 5

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

Predictors lean, ClinVar uncertain 108

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

Predictors split 23

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

All RGR variants

Pathogenic 1

  • c.*74dup No assertion criteria inherited retinal dystrophy

Likely pathogenic 1

  • p.Arg274fs Single submitter retinitis pigmentosa

Conflicting classifications of pathogenicity 15

Benign 6

  • c.630+16C>T Multiple submitters
  • c.*416A>G Multiple submitters retinitis pigmentosa
  • c.*65A>G Multiple submitters retinitis pigmentosa
  • p.Thr4= Multiple submitters
  • p.Thr9= Multiple submitters retinitis pigmentosa
  • p.Tyr153= Multiple submitters inherited retinal dystrophy

Benign/Likely benign 2

Likely benign 110

Uncertain significance 195