Sugi Variant

Sugi Variant/RDH5

RDH5 — 68 ClinVar variants

All ClinVar germline RDH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →

8 Pathogenic · 5 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 4 Conflicting · 1 Benign · 3 Benign/Likely benign · 10 Likely benign · 32 Uncertain significance

Full RDH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 27

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 2

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

Predictors lean, ClinVar uncertain 18

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

Predictors split 7

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

All RDH5 variants

Pathogenic 8

Pathogenic/Likely pathogenic 5

  • p.Asp128Asn Multiple submitters RDH5-related disorder
  • p.Gln130Ter Multiple submitters RDH5-related disorder
  • p.Gly238Trp Multiple submitters RDH5-related disorder
  • p.Leu272fs Multiple submitters RDH5-related disorder
  • p.Pro211fs Multiple submitters RDH5-related disorder

Likely pathogenic 5

Conflicting classifications of pathogenicity 4

Benign 1

Benign/Likely benign 3

  • c.570-8G>C Multiple submitters fundus albipunctatus
  • p.Arg75His Multiple submitters fundus albipunctatus
  • p.Val89Ile Multiple submitters fundus albipunctatus

Likely benign 10

Uncertain significance 32