RPS23 — 15 ClinVar variants
All ClinVar germline RPS23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Pathogenic · 1 Benign · 5 Likely benign · 7 Uncertain significance
Full RPS23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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RPS23 p.Ala47Thr
Uncertain significance
Single submitter
brachycephaly, trichomegaly, and developmental delay
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RPS23 p.Arg119Cys
Uncertain significance
Single submitter
brachycephaly, trichomegaly, and developmental delay
- RPS23 p.Gln20Glu Uncertain significance Single submitter
All RPS23 variants
Pathogenic 2
- p.Arg67Lys No assertion criteria brachycephaly, trichomegaly, and developmental delay
- p.Phe120Ile No assertion criteria brachycephaly, trichomegaly, and developmental delay
Benign 1
- c.285+33C>G Single submitter brachycephaly, trichomegaly, and developmental delay
Likely benign 5
Uncertain significance 7
- c.4+4A>C Single submitter
- c.4+6C>T Single submitter
- c.-14G>T Single submitter
- c.-1G>A Single submitter
- p.Ala47Thr Single submitter brachycephaly, trichomegaly, and developmental delay ⚠
- p.Arg119Cys Single submitter brachycephaly, trichomegaly, and developmental delay ⚠
- p.Gln20Glu Single submitter ⚠