RPL30 — 5 ClinVar variants
All ClinVar germline RPL30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely benign · 4 Uncertain significance
Full RPL30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All RPL30 variants
Likely benign 1
- p.Gly82= Single submitter
Uncertain significance 4
- p.Gln33Arg Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.Met22Ile Single submitter ⚠