RPL17 — 15 ClinVar variants
All ClinVar germline RPL17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Likely pathogenic · 13 Uncertain significance
Full RPL17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
Predictors split 6
The independent predictors disagree with each other — read with care.
- RPL17 p.Arg30His Uncertain significance Single submitter
- RPL17 p.Arg42Gln Uncertain significance Single submitter
- RPL17 p.Asn64Ser Uncertain significance Single submitter
- RPL17 p.Glu115Gln Uncertain significance Single submitter
- RPL17 p.Lys46Asn Uncertain significance Single submitter
- RPL17 p.Thr52Ala Uncertain significance Single submitter
All RPL17 variants
Likely pathogenic 2
- p.Thr151fs Single submitter High forehead
- c.217-3C>G No assertion criteria Diamond-Blackfan anemia
Uncertain significance 13
- p.Arg30His Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg62Gly Single submitter ⚠
- p.Asn64Ser Single submitter ⚠
- p.Gln56Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Glu115Gln Single submitter ⚠
- p.Lys46Asn Single submitter ⚠
- p.Met181Thr Single submitter
- p.Met181Val Single submitter ⚠
- p.Pro59fs Single submitter Diamond-Blackfan anemia 22
- p.Thr151Met Single submitter
- p.Thr52Ala Single submitter ⚠
- p.Trp76Cys Single submitter ⚠