Sugi Variant

Sugi Variant/RTN4IP1

RTN4IP1 — 352 ClinVar variants

All ClinVar germline RTN4IP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

21 Pathogenic · 5 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 14 Conflicting · 31 Benign · 14 Benign/Likely benign · 99 Likely benign · 155 Uncertain significance

Full RTN4IP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 8

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

Predictors lean, ClinVar uncertain 109

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

Predictors split 25

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

All RTN4IP1 variants

Pathogenic 21

  • c.806+1G>A Multiple submitters optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • p.Arg103His Multiple submitters optic atrophy
  • p.Arg310Ter Multiple submitters
  • p.Lys201Ter Multiple submitters optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • p.Ala227fs Single submitter
  • p.Cys18fs Single submitter
  • p.Gln238Ter Single submitter
  • p.Glu114Ter Single submitter
  • p.Glu355Ter Single submitter
  • p.Gly196fs Single submitter
  • p.Gly216Arg Single submitter
  • p.Gly321fs Single submitter
  • p.Gly325delinsLeuTer Single submitter
  • p.Leu119fs Single submitter
  • p.Leu329Ter Single submitter
  • p.Met1Thr Single submitter optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • p.Trp46Ter Single submitter
  • c.620+1del No assertion criteria inherited retinal dystrophy
  • p.Gly321Glu No assertion criteria optic atrophy 10 with or without ataxia, intellectual disability, and seizures ⚠
  • p.Ser167Phe No assertion criteria optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • p.Trp144Ter No assertion criteria optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Pathogenic/Likely pathogenic 5

  • c.1083+2T>C Multiple submitters RTN4IP1-related disorder
  • p.Pro269fs Multiple submitters RTN4IP1-related disorder
  • p.Ser293Ter Multiple submitters RTN4IP1-related disorder
  • p.Thr320fs Multiple submitters RTN4IP1-related disorder
  • p.Trp20Ter Multiple submitters RTN4IP1-related disorder

Likely pathogenic 13

Conflicting classifications of pathogenicity 14

Benign 31

Benign/Likely benign 14

Likely benign 99

Uncertain significance 155