RPS27A — 25 ClinVar variants
All ClinVar germline RPS27A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
11 Benign · 5 Likely benign · 9 Uncertain significance
Full RPS27A 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.
- RPS27A p.Ala28Val Uncertain significance Single submitter
- RPS27A p.Arg118Ser Uncertain significance Single submitter
- RPS27A p.Arg54Cys Uncertain significance Single submitter
- RPS27A p.Gly76Ser Uncertain significance Single submitter
- RPS27A p.Ile36Val Uncertain significance Single submitter
- RPS27A p.Lys29Glu Uncertain significance Single submitter
- RPS27A p.Pro37Thr Uncertain significance Single submitter
- RPS27A p.Tyr140His Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All RPS27A variants
Benign 11
- c.103+198C>T Multiple submitters
- c.103+52A>T Multiple submitters
- c.104-202A>G Multiple submitters
- c.189+69T>C Multiple submitters
- c.190-144T>A Multiple submitters
- c.322-41G>A Multiple submitters
- p.Arg72= Multiple submitters
- c.103+54_103+57del Single submitter
- c.103+60_103+62del Single submitter
- c.190-3C>A Single submitter
- c.322-101A>T Single submitter
Likely benign 5
- c.190-9C>T Single submitter
- c.*1C>A Single submitter
- p.Leu50= Single submitter
- p.Ser57Pro Single submitter
- p.Tyr140= Single submitter
Uncertain significance 9
- p.Ala28Val Single submitter ⚠
- p.Arg118Ser Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Asn151Ser Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Lys29Glu Single submitter ⚠
- p.Pro37Thr Single submitter ⚠
- p.Tyr140His Single submitter ⚠