Sugi Variant

Sugi Variant/RPS10

RPS10 — 176 ClinVar variants

All ClinVar germline RPS10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 5 Conflicting · 13 Benign · 8 Benign/Likely benign · 67 Likely benign · 71 Uncertain significance

Full RPS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 37

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

Predictors split 12

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

All RPS10 variants

Pathogenic 6

  • p.Arg113Ter Multiple submitters Diamond-Blackfan anemia
  • p.Val90fs Multiple submitters Diamond-Blackfan anemia
  • p.Arg96fs Single submitter Diamond-Blackfan anemia
  • p.Met1Val Single submitter Diamond-Blackfan anemia
  • p.Glu88fs No assertion criteria Diamond-Blackfan anemia 9
  • p.Met1Ile No assertion criteria Diamond-Blackfan anemia 9

Likely pathogenic 6

Conflicting classifications of pathogenicity 5

  • c.1-3C>G Single submitter Diamond-Blackfan anemia 9
  • p.Asp37Glu Single submitter Diamond-Blackfan anemia ⚠
  • p.Lys24Arg Single submitter Diamond-Blackfan anemia 9 ⚠
  • p.Pro87= Single submitter Diamond-Blackfan anemia
  • p.Ser146Leu Single submitter Diamond-Blackfan anemia 9

Benign 13

Benign/Likely benign 8

  • c.1-18A>G Multiple submitters Diamond-Blackfan anemia 9
  • c.401-18C>T Multiple submitters Diamond-Blackfan anemia
  • c.401-9A>G Multiple submitters Diamond-Blackfan anemia
  • p.Ala144= Multiple submitters Diamond-Blackfan anemia
  • p.Gln77= Multiple submitters Diamond-Blackfan anemia 9
  • p.Leu2= Multiple submitters Diamond-Blackfan anemia 9
  • p.Thr148= Multiple submitters Diamond-Blackfan anemia
  • p.Tyr68= Multiple submitters Diamond-Blackfan anemia

Likely benign 67

Uncertain significance 71