Sugi Variant

Sugi Variant/RPS29

RPS29 — 72 ClinVar variants

All ClinVar germline RPS29 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 2 Benign · 2 Benign/Likely benign · 37 Likely benign · 25 Uncertain significance

Full RPS29 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 19

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 1

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

Predictors lean, ClinVar uncertain 11

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 RPS29 variants

Pathogenic 1

  • p.Ile31Phe No assertion criteria Diamond-Blackfan anemia 13

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

  • c.63-7C>A Single submitter Diamond-Blackfan anemia 13
  • p.Ile53Val Single submitter Inborn genetic diseases ⚠

Benign 2

Benign/Likely benign 2

Likely benign 37

Uncertain significance 25