Sugi Variant

Sugi Variant/RPS17

RPS17 — 34 ClinVar variants

All ClinVar germline RPS17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 6 Likely benign · 16 Uncertain significance

Full RPS17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 9

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 lean, ClinVar uncertain 8

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 RPS17 variants

Pathogenic 4

  • p.Met1Arg Single submitter Diamond-Blackfan anemia
  • p.Tyr21fs Single submitter Diamond-Blackfan anemia
  • p.Gly68fs No assertion criteria Diamond-Blackfan anemia 4
  • p.Tyr53Ter No assertion criteria Diamond-Blackfan anemia 4

Pathogenic/Likely pathogenic 1

  • p.Met1Val Multiple submitters Diamond-Blackfan anemia

Likely pathogenic 2

  • c.156-1G>A Single submitter Diamond-Blackfan anemia 4
  • c.327+1G>A Single submitter Diamond-Blackfan anemia 4

Conflicting classifications of pathogenicity 1

  • p.Tyr53= Single submitter Diamond-Blackfan anemia

Benign 3

Benign/Likely benign 1

  • c.328-7G>A Multiple submitters Diamond-Blackfan anemia 4

Likely benign 6

  • p.Glu104= Multiple submitters Diamond-Blackfan anemia 4
  • p.Ala13= Single submitter Diamond-Blackfan anemia
  • p.Ala51= Single submitter Diamond-Blackfan anemia
  • p.Pro42= Single submitter Diamond-Blackfan anemia
  • p.Thr130= Single submitter Diamond-Blackfan anemia
  • p.Val15= Single submitter Diamond-Blackfan anemia

Uncertain significance 16