Sugi Variant

Sugi Variant/RPIA

RPIA — 112 ClinVar variants

All ClinVar germline RPIA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 6 Benign · 1 Benign/Likely benign · 30 Likely benign · 63 Uncertain significance

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

⚑ Evidence disagreements 41

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 35

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

Predictors split 5

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

All RPIA variants

Pathogenic 5

  • p.Arg151Ter Multiple submitters Inborn genetic diseases
  • c.347-1G>A Single submitter ribose-5-P isomerase deficiency
  • p.Arg227Ter Single submitter ribose-5-P isomerase deficiency
  • p.Ala135Val No assertion criteria ribose-5-P isomerase deficiency
  • p.Asn255fs No assertion criteria ribose-5-P isomerase deficiency

Likely pathogenic 3

  • p.Ala85Thr Single submitter ribose-5-P isomerase deficiency
  • p.Ile257Thr Single submitter ribose-5-P isomerase deficiency
  • p.Trp209Cys Single submitter ribose-5-P isomerase deficiency

Conflicting classifications of pathogenicity 4

  • c.527+11T>C Single submitter ribose-5-P isomerase deficiency
  • p.Asp263= Single submitter ribose-5-P isomerase deficiency
  • p.Gln2Arg Single submitter ribose-5-P isomerase deficiency ⚠
  • p.Pro19= Single submitter ribose-5-P isomerase deficiency

Benign 6

Benign/Likely benign 1

Likely benign 30

Uncertain significance 63