RPL23 — 26 ClinVar variants
All ClinVar germline RPL23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Conflicting · 1 Benign · 14 Likely benign · 10 Uncertain significance
Full RPL23 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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL23 p.Arg89Gly Uncertain significance Multiple submitters
- RPL23 p.Arg89His Uncertain significance Multiple submitters
- RPL23 p.Ile132Val Uncertain significance Multiple submitters
- RPL23 p.Ala122Thr Uncertain significance Single submitter
- RPL23 p.Ile105Thr Uncertain significance Single submitter
- RPL23 p.Met112Thr Uncertain significance Single submitter
- RPL23 p.Tyr97Asn Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All RPL23 variants
Conflicting classifications of pathogenicity 1
- p.Val94Met Single submitter ⚠
Benign 1
- c.227-12T>C Single submitter
Likely benign 14
- c.341-30ATTTT[3] Multiple submitters
- c.13+20G>C Single submitter
- c.227-14T>C Single submitter
- c.227-20G>A Single submitter
- c.340+11A>C Single submitter
- c.340+17G>A Single submitter
- c.341-30ATTTT[2] Single submitter
- c.341-30ATTTT[5] Single submitter
- c.341-5T>C Single submitter
- p.Ala122= Single submitter
- p.Asp92= Single submitter
- p.Glu124= Single submitter
- p.Gly110= Single submitter
- p.Gly93= Single submitter
Uncertain significance 10
- p.Arg89Gly Multiple submitters ⚠
- p.Arg89His Multiple submitters ⚠
- p.Ile132Val Multiple submitters ⚠
- c.227-7_227-3del Single submitter
- c.340+6A>C Single submitter
- p.Ala122Thr Single submitter ⚠
- p.Ile105Thr Single submitter ⚠
- p.Ile105Val Single submitter ⚠
- p.Met112Thr Single submitter ⚠
- p.Tyr97Asn Single submitter ⚠