RPS15A — 32 ClinVar variants
All ClinVar germline RPS15A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 2 Benign · 21 Likely benign · 8 Uncertain significance
Full RPS15A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPS15A p.Asn5Ser Uncertain significance Single submitter
- RPS15A p.Gly21Ser Uncertain significance Single submitter
- RPS15A p.Gly59Glu Uncertain significance Single submitter
- RPS15A p.Ile47Thr Uncertain significance Single submitter
- RPS15A p.Ile53Thr Uncertain significance Single submitter
- RPS15A p.Leu26Pro Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All RPS15A variants
Pathogenic 1
- p.Lys71= No assertion criteria Diamond-Blackfan anemia 20
Benign 2
- c.134-151G>T Multiple submitters
- c.-5-198C>G Single submitter
Likely benign 21
- p.Ala17= Multiple submitters
- p.Arg36= Multiple submitters
- p.Leu38= Multiple submitters
- c.133+14C>T Single submitter
- c.213+8C>T Single submitter
- c.214-21GTT[2] Single submitter
- c.214-21GTT[3] Single submitter
- c.214-21GTT[5] Single submitter
- c.214-8T>C Single submitter
- p.Ala116= Single submitter
- p.Ala8= Single submitter
- p.Asn15= Single submitter
- p.Asp80= Single submitter
- p.Gly48= Single submitter
- p.Gly73= Single submitter
- p.Ile61= Single submitter
- p.Thr106= Single submitter
- p.Thr66= Single submitter
- p.Val35= Single submitter
- p.Val40= Single submitter
- p.Val81= Single submitter
Uncertain significance 8
- p.Asn5Ser Single submitter ⚠
- p.Cys30Arg Single submitter ⚠
- p.Gly21Ser Single submitter ⚠
- p.Gly59Glu Single submitter ⚠
- p.Ile47Thr Single submitter ⚠
- p.Ile53Thr Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Phe101Cys Single submitter ⚠