RPL31 — 71 ClinVar variants
All ClinVar germline RPL31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely pathogenic · 1 Conflicting · 11 Benign · 2 Benign/Likely benign · 26 Likely benign · 30 Uncertain significance
Full RPL31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL31 p.Arg44Gln Uncertain significance Multiple submitters
- RPL31 p.Arg50Trp Uncertain significance Multiple submitters
- RPL31 p.Asn28Ser Uncertain significance Multiple submitters
- RPL31 p.Gly35Arg Uncertain significance Multiple submitters
- RPL31 p.Ala45Thr Uncertain significance Single submitter
- RPL31 p.Arg32Leu Uncertain significance Single submitter
- RPL31 p.Arg63His Uncertain significance Single submitter
- RPL31 p.Arg83Gln Uncertain significance Single submitter
- RPL31 p.Arg87Leu Uncertain significance Single submitter
- RPL31 p.Arg87Trp Uncertain significance Single submitter
- RPL31 p.Asn18Asp Uncertain significance Single submitter
- RPL31 p.Leu46Arg Uncertain significance Single submitter
- RPL31 p.Met57Val Uncertain significance Single submitter
- RPL31 p.Phe114Leu Uncertain significance Single submitter
- RPL31 p.Ser15Phe Uncertain significance Single submitter
- RPL31 p.Val36Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RPL31 p.Lys47Arg Uncertain significance Multiple submitters
- RPL31 p.Thr112Asn Likely benign Multiple submitters
- RPL31 p.Arg41Cys Uncertain significance Single submitter
- RPL31 p.Arg50Gln Uncertain significance Single submitter
- RPL31 p.Arg87Gln Uncertain significance Single submitter
- RPL31 p.Ile27Val Uncertain significance Single submitter
- RPL31 p.Met54Val Uncertain significance Single submitter
- RPL31 p.Phe52Leu Uncertain significance Single submitter
All RPL31 variants
Likely pathogenic 1
- c.*23_*24del Single submitter Diamond-Blackfan anemia
Conflicting classifications of pathogenicity 1
- c.233+13T>C Single submitter
Benign 11
- c.107+107C>T Multiple submitters
- c.107+13C>G Multiple submitters
- c.107+51T>C Multiple submitters
- c.107+62G>A Multiple submitters
- c.233+21C>G Multiple submitters
- c.234-190C>T Multiple submitters
- c.346+94C>A Multiple submitters
- c.347-84C>T Multiple submitters
- c.347-91G>A Multiple submitters
- c.*38C>T Multiple submitters
- c.347-173C>T Single submitter
Likely benign 26
- c.107+17C>T Multiple submitters
- c.107+9C>T Multiple submitters
- c.234-13A>T Multiple submitters
- p.Ala71= Multiple submitters
- p.Thr112Asn Multiple submitters ⚠
- c.107+10C>G Single submitter
- c.107+13C>T Single submitter
- c.107+7A>G Single submitter
- c.108-14T>C Single submitter
- c.108-15A>G Single submitter
- c.108-18C>T Single submitter
- c.108-5C>T Single submitter
- c.233+11T>A Single submitter
- c.234-10T>C Single submitter
- c.234-16A>G Single submitter
- c.234-18C>T Single submitter
- c.234-20C>T Single submitter
- c.346+11C>T Single submitter
- c.346+14C>T Single submitter
- p.Arg32= Single submitter
- p.Arg83= Single submitter
- p.Gly13= Single submitter
- p.Gly8= Single submitter
- p.Ile64= Single submitter
- p.Leu102= Single submitter
- p.Thr113= Single submitter
Uncertain significance 30
- p.Arg44Gln Multiple submitters ⚠
- p.Arg50Trp Multiple submitters ⚠
- p.Asn28Ser Multiple submitters ⚠
- p.Gly35Arg Multiple submitters ⚠
- p.Lys47Arg Multiple submitters ⚠
- c.233+3G>A Single submitter
- c.233+6A>G Single submitter
- c.234-12T>A Single submitter
- c.347-1_357del Single submitter
- p.Ala45Thr Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Leu Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asn120fs Single submitter
- p.Asn18Asp Single submitter ⚠
- p.Glu56del Single submitter
- p.Ile27Val Single submitter ⚠
- p.Leu46Arg Single submitter ⚠
- p.Met54Val Single submitter ⚠
- p.Met57Val Single submitter ⚠
- p.Phe114Leu Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Ser15Phe Single submitter ⚠
- p.Val36Leu Single submitter ⚠
- p.Asn120Thr No assertion criteria RPL31-related condition