Sugi Variant

Sugi Variant/MRPS23

MRPS23 — 72 ClinVar variants

All ClinVar germline MRPS23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

1 Pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 30 Likely benign · 35 Uncertain significance

Full MRPS23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 23

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 MRPS23 variants

Pathogenic 1

  • p.Pro40Arg No assertion criteria combined oxidative phosphorylation deficiency 46

Conflicting classifications of pathogenicity 1

  • p.Pro40Leu Single submitter combined oxidative phosphorylation deficiency 46 ⚠

Benign 4

Benign/Likely benign 1

Likely benign 30

Uncertain significance 35