Sugi Variant

Sugi Variant/RPL13

RPL13 — 48 ClinVar variants

All ClinVar germline RPL13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Conflicting · 4 Likely benign · 33 Uncertain significance

Full RPL13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 31

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 11

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

All RPL13 variants

Pathogenic 6

  • c.477+1G>T Single submitter spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • c.478-1G>T Single submitter spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • c.477+2T>C No assertion criteria spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • p.Ala178Asp No assertion criteria spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • p.Ala185Pro No assertion criteria spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • p.Arg183Leu No assertion criteria spondyloepimetaphyseal dysplasia

Pathogenic/Likely pathogenic 1

  • c.477+1G>A Multiple submitters spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Likely pathogenic 2

  • p.Arg190Leu Single submitter spondyloepimetaphyseal dysplasia, Isidor-Toutain type
  • p.Glu173fs Single submitter spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Conflicting classifications of pathogenicity 2

  • p.Arg183His Single submitter RPL13-related disorder ⚠
  • p.Arg183Pro Single submitter spondyloepimetaphyseal dysplasia, Isidor-Toutain type ⚠

Likely benign 4

Uncertain significance 33