RPS14 — 12 ClinVar variants
All ClinVar germline RPS14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
7 Likely benign · 5 Uncertain significance
Full RPS14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All RPS14 variants
Likely benign 7
- c.149+8C>T Single submitter
- c.150-20C>T Single submitter
- c.312-13C>A Single submitter
- p.Asp138= Single submitter
- p.Ser122= Single submitter
- p.Ser36= No assertion criteria RPS14-related condition
- p.Thr107= No assertion criteria RPS14-related condition
Uncertain significance 5
- p.Arg121Cys Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg128Trp Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Glu8Ala Single submitter ⚠