Sugi Variant

Sugi Variant/RBP3

RBP3 — 1057 ClinVar variants

All ClinVar germline RBP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 650 flagged for review →

30 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 56 Conflicting · 10 Benign · 7 Benign/Likely benign · 295 Likely benign · 648 Uncertain significance

Full RBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 650

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 agree, ClinVar conflicts 18

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

Predictors lean, ClinVar uncertain 319

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 319

Predictors split 312

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 312

All RBP3 variants

Pathogenic 30

Pathogenic/Likely pathogenic 3

Likely pathogenic 8

Conflicting classifications of pathogenicity 56

Benign 10

Benign/Likely benign 7

  • p.Ala501= Multiple submitters retinitis pigmentosa
  • p.Asp749= Multiple submitters retinitis pigmentosa
  • p.Ser26= Multiple submitters retinitis pigmentosa
  • p.Ser966= Multiple submitters retinitis pigmentosa
  • p.Val432= Multiple submitters retinitis pigmentosa
  • p.Val884Met Multiple submitters inherited retinal dystrophy ⚠
  • p.Ala1148= No assertion criteria

Likely benign 295

Uncertain significance 648

Showing the top 300 by review status; the full set is in the sitemap.