Sugi Variant

Sugi Variant/RPS28

RPS28 — 40 ClinVar variants

All ClinVar germline RPS28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →

2 Conflicting · 4 Benign · 1 Benign/Likely benign · 27 Likely benign · 6 Uncertain significance

Full RPS28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 5

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 3

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

Predictors split 1

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

All RPS28 variants

Conflicting classifications of pathogenicity 2

  • p.Met1Val Single submitter Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
  • p.Thr3Ala Single submitter ⚠

Benign 4

Benign/Likely benign 1

Likely benign 27

Uncertain significance 6