Sugi Variant

Sugi Variant/RTN2

RTN2 — 346 ClinVar variants

All ClinVar germline RTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 19 Conflicting · 25 Benign · 16 Benign/Likely benign · 90 Likely benign · 181 Uncertain significance

Full RTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 169

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 12

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

Predictors lean, ClinVar uncertain 127

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

Predictors split 30

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

All RTN2 variants

Pathogenic 7

  • p.Cys389Ter Single submitter Spastic paraplegia
  • p.Trp277Ter Single submitter Spastic paraplegia
  • p.Arg35Ter No assertion criteria hereditary spastic paraplegia 12
  • p.Arg60fs No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • p.Gly27Ter No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • p.Leu235fs No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • p.Pro96fs No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

Pathogenic/Likely pathogenic 3

  • p.Glu50Ter Multiple submitters Spastic paraplegia
  • p.Gly309fs Multiple submitters hereditary spastic paraplegia 12
  • p.Gly57fs Multiple submitters Spastic paraplegia

Likely pathogenic 5

Conflicting classifications of pathogenicity 19

Benign 25

Benign/Likely benign 16

Likely benign 90

Uncertain significance 181