MRPS17 — 17 ClinVar variants
All ClinVar germline MRPS17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Likely benign · 15 Uncertain significance
Full MRPS17 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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MRPS17 p.Ala82Gly Uncertain significance Single submitter
- MRPS17 p.Gln23Glu Uncertain significance Single submitter
- MRPS17 p.Gly19Arg Uncertain significance Single submitter
- MRPS17 p.Gly97Glu Uncertain significance Single submitter
- MRPS17 p.Ile18Thr Uncertain significance Single submitter
- MRPS17 p.Lys119Arg Uncertain significance Single submitter
- MRPS17 p.Val14Leu Uncertain significance Single submitter
- MRPS17 p.Val60Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All MRPS17 variants
Likely benign 2
- c.124-6C>G Single submitter
- p.Val85Ile Single submitter
Uncertain significance 15
- p.Ala51Ser Single submitter
- p.Ala82Gly Single submitter ⚠
- p.Arg46Trp Single submitter
- p.Gln23Glu Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly97Glu Single submitter ⚠
- p.His9Arg Single submitter
- p.Ile18Thr Single submitter ⚠
- p.Leu35Arg Single submitter
- p.Lys119Arg Single submitter ⚠
- p.Thr20Arg Single submitter
- p.Tyr38Cys Single submitter ⚠
- p.Tyr49Cys Single submitter
- p.Val14Leu Single submitter ⚠
- p.Val60Ala Single submitter ⚠