RPL21 — 34 ClinVar variants
All ClinVar germline RPL21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Pathogenic · 11 Benign · 10 Likely benign · 12 Uncertain significance
Full RPL21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RPL21 p.Arg32Gln
Pathogenic
No assertion criteria
hypotrichosis 12
Predictors lean, ClinVar uncertain 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL21 p.Arg102Gln Uncertain significance Single submitter
- RPL21 p.Arg108His Uncertain significance Single submitter
- RPL21 p.Gly37Ser Uncertain significance Single submitter
- RPL21 p.His22Arg Uncertain significance Single submitter
- RPL21 p.His98Arg Uncertain significance Single submitter
- RPL21 p.Met159Val Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RPL21 variants
Pathogenic 1
- p.Arg32Gln No assertion criteria hypotrichosis 12 ⚠
Benign 11
- c.130-69G>A Multiple submitters
- c.67+61A>G Multiple submitters
- c.67+9G>A Multiple submitters
- c.-12-91C>T Multiple submitters
- p.Pro53= Multiple submitters
- c.130-310dup Single submitter
- c.243-19G>T Single submitter
- c.243-222A>G Single submitter
- c.393+3A>G Single submitter
- c.394-11del Single submitter
- c.68-14A>T Single submitter
Likely benign 10
Uncertain significance 12
- p.Ala119Ser Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg108His Single submitter ⚠
- p.Gln79Lys Single submitter ⚠
- p.Gly37Ser Single submitter ⚠
- p.His22= Single submitter
- p.His22Arg Single submitter ⚠
- p.His98Arg Single submitter ⚠
- p.Leu128Ile Single submitter
- p.Leu128Val Single submitter ⚠
- p.Met159Val Single submitter ⚠
- p.Thr124Ala Single submitter ⚠