RPL15 — 177 ClinVar variants
All ClinVar germline RPL15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
8 Pathogenic · 2 Likely pathogenic · 5 Conflicting · 10 Benign · 6 Benign/Likely benign · 67 Likely benign · 79 Uncertain significance
Full RPL15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RPL15 p.Arg189Gln Conflicting Single submitter
-
RPL15 p.Lys153Arg
Conflicting
Single submitter
Diamond-Blackfan anemia 12
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL15 p.Ala35Thr Uncertain significance Multiple submitters
-
RPL15 p.Arg108His
Uncertain significance
Multiple submitters
RPL15-related disorder
-
RPL15 p.Arg188His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 12
- RPL15 p.Arg189Trp Uncertain significance Multiple submitters
- RPL15 p.Arg202Cys Uncertain significance Multiple submitters
- RPL15 p.Ile61Thr Uncertain significance Multiple submitters
- RPL15 p.Lys128Arg Uncertain significance Multiple submitters
-
RPL15 p.Lys179Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 12
- RPL15 p.Val66Ile Uncertain significance Multiple submitters
- RPL15 p.Ala102Pro Uncertain significance Single submitter
- RPL15 p.Ala95Ser Uncertain significance Single submitter
- RPL15 p.Arg108Ser Uncertain significance Single submitter
- RPL15 p.Arg114Thr Uncertain significance Single submitter
- RPL15 p.Arg143Gly Uncertain significance Single submitter
- RPL15 p.Arg162His Uncertain significance Single submitter
- RPL15 p.Arg169Leu Uncertain significance Single submitter
- RPL15 p.Arg172Cys Uncertain significance Single submitter
- RPL15 p.Arg193Lys Uncertain significance Single submitter
- RPL15 p.Arg204Cys Uncertain significance Single submitter
- RPL15 p.Arg41Leu Uncertain significance Single submitter
- RPL15 p.Arg49Cys Uncertain significance Single submitter
- RPL15 p.Arg49His Uncertain significance Single submitter
- RPL15 p.Arg65His Uncertain significance Single submitter
- RPL15 p.Arg67His Uncertain significance Single submitter
- RPL15 p.Arg68Cys Uncertain significance Single submitter
- RPL15 p.Arg71Gln Uncertain significance Single submitter
- RPL15 p.Arg73Cys Uncertain significance Single submitter
- RPL15 p.Asn117Asp Uncertain significance Single submitter
- RPL15 p.Asp46Glu Uncertain significance Single submitter
- RPL15 p.Gln15Arg Uncertain significance Single submitter
- RPL15 p.Gln29His Uncertain significance Single submitter
- RPL15 p.Gln29Lys Uncertain significance Single submitter
- RPL15 p.Gln8Pro Uncertain significance Single submitter
- RPL15 p.Gly107Ala Uncertain significance Single submitter
-
RPL15 p.Gly185Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 12
- RPL15 p.Gly82Ser Uncertain significance Single submitter
- RPL15 p.Lys128Thr Uncertain significance Single submitter
-
RPL15 p.Lys153Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 12
- RPL15 p.Lys56Glu Uncertain significance Single submitter
- RPL15 p.Lys72Arg Uncertain significance Single submitter
- RPL15 p.Phe129Tyr Uncertain significance Single submitter
- RPL15 p.Phe180Leu Uncertain significance Single submitter
- RPL15 p.Phe180Tyr Uncertain significance Single submitter
- RPL15 p.Pro137Gln Uncertain significance Single submitter
- RPL15 p.Pro154Ala Uncertain significance Single submitter
- RPL15 p.Pro40Ser Uncertain significance Single submitter
- RPL15 p.Pro42Ser Uncertain significance Single submitter
- RPL15 p.Pro76Leu Uncertain significance Single submitter
- RPL15 p.Ser171Arg Uncertain significance Single submitter
- RPL15 p.Thr43Ile Uncertain significance Single submitter
- RPL15 p.Trp28Cys Uncertain significance Single submitter
- RPL15 p.Pro146Ala Uncertain significance No assertion criteria
- RPL15 p.Ser34Phe Uncertain significance No assertion criteria
Predictors split 18
The independent predictors disagree with each other — read with care.
- RPL15 p.Arg169Gln Uncertain significance Multiple submitters
- RPL15 p.Gly122Cys Uncertain significance Multiple submitters
- RPL15 p.Leu92Ile Uncertain significance Multiple submitters
- RPL15 p.Val60Ile Uncertain significance Multiple submitters
- RPL15 p.Arg12Lys Uncertain significance Single submitter
- RPL15 p.Arg169Gly Uncertain significance Single submitter
- RPL15 p.Asn117Ser Uncertain significance Single submitter
- RPL15 p.Asp147Asn Conflicting Single submitter
- RPL15 p.Gln149Arg Uncertain significance Single submitter
- RPL15 p.Gln99His Uncertain significance Single submitter
- RPL15 p.His181Asp Uncertain significance Single submitter
- RPL15 p.His86Arg Uncertain significance Single submitter
- RPL15 p.Ile135Met Uncertain significance Single submitter
- RPL15 p.Lys179Asn Uncertain significance Single submitter
- RPL15 p.Ser187Cys Uncertain significance Single submitter
- RPL15 p.Ser97Asn Uncertain significance Single submitter
- RPL15 p.Thr148Ser Uncertain significance Single submitter
- RPL15 p.Tyr203His Uncertain significance Single submitter
All RPL15 variants
Pathogenic 8
- c.165_172+16del Single submitter
- c.310-2A>G Single submitter
- p.Arg44fs Single submitter Diamond-Blackfan anemia 12
- p.Arg71Ter Single submitter
- p.Tyr81Ter Single submitter Diamond-Blackfan anemia 12
- c.309+91_361-539del No assertion criteria Diamond-Blackfan anemia 12
- p.Gln29Ter No assertion criteria Diamond-Blackfan anemia 12
- p.Leu10Pro No assertion criteria Diamond-Blackfan anemia 12
Likely pathogenic 2
- p.Arg105Leu Single submitter Diamond-Blackfan anemia 12
- p.Arg105Ter Single submitter
Conflicting classifications of pathogenicity 5
- c.172+5G>A Single submitter Diamond-Blackfan anemia 12
- p.Arg189Gln Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.His126fs Single submitter
- p.Lys153Arg Single submitter Diamond-Blackfan anemia 12 ⚠
Benign 10
- c.361-23T>G Multiple submitters
- c.361-24T>G Multiple submitters
- c.361-25T>G Multiple submitters
- c.*225G>A Multiple submitters
- p.Tyr81= Multiple submitters Diamond-Blackfan anemia 12
- c.173-4G>A Single submitter
- c.361-26_361-25insG Single submitter
- c.361-5del Single submitter
- c.361-6_361-5del Single submitter
- c.361-15_361-5del No assertion criteria RPL15-related disorder
Benign/Likely benign 6
- c.173-18G>A Multiple submitters Diamond-Blackfan anemia 12
- c.309+13G>C Multiple submitters Diamond-Blackfan anemia 12
- c.*17G>A Multiple submitters
- p.Arg159= Multiple submitters
- p.Phe94= Multiple submitters
- p.Tyr59= Multiple submitters
Likely benign 67
- c.173-10T>C Multiple submitters
- c.310-18C>G Multiple submitters
- c.361-22T>G Multiple submitters
- p.Ala139Val Multiple submitters
- p.Asp147= Multiple submitters
- p.Leu98= Multiple submitters
- c.172+12A>G Single submitter
- c.172+13C>T Single submitter
- c.172+15G>A Single submitter
- c.172+7G>A Single submitter
- c.173-16G>T Single submitter
- c.173-50G>A Single submitter
- c.309+12T>G Single submitter
- c.309+15G>C Single submitter
- c.309+8G>A Single submitter
- c.310-4C>G Single submitter
- c.310-5_310-3del Single submitter
- c.310-9C>G Single submitter
- c.361-15T>C Single submitter
- c.361-17T>G Single submitter
- c.361-18T>G Single submitter
- c.361-20T>G Single submitter
- c.*770A>G Single submitter
- p.Ala55= Single submitter
- p.Arg108= Single submitter
- p.Arg144Gln Single submitter
- p.Arg162= Single submitter
- p.Arg169= Single submitter
- p.Arg193= Single submitter
- p.Arg44= Single submitter
- p.Cys110= Single submitter
- p.Gln149= Single submitter
- p.Gln15= Single submitter
- p.Gly111= Single submitter
- p.Gly177= Single submitter
- p.Gly185= Single submitter
- p.Gly186= Single submitter
- p.Gly52= Single submitter
- p.His182= Single submitter
- p.Ile133= Single submitter
- p.Leu113= Single submitter
- p.Leu134= Single submitter
- p.Leu198= Single submitter
- p.Leu92= Single submitter
- p.Lys56= Single submitter
- p.Phe180= Single submitter
- p.Pro146= Single submitter
- p.Pro40= Single submitter
- p.Pro74= Single submitter
- p.Ser100= Single submitter
- p.Ser16= Single submitter
- p.Ser171= Single submitter
- p.Ter205= Single submitter
- p.Thr165= Single submitter
- p.Thr80= Single submitter
- p.Tyr119= Single submitter
- p.Tyr127= Single submitter
- p.Tyr6= Single submitter
- p.Val115= Single submitter
- p.Val121= Single submitter
- p.Val132= Single submitter
- p.Val25= Single submitter
- p.Val60= Single submitter
- c.310-7A>G No assertion criteria RPL15-related disorder
- c.361-6_361-5dup No assertion criteria RPL15-related disorder
- c.*4A>G No assertion criteria RPL15-related disorder
- p.Gly175= No assertion criteria RPL15-related disorder
Uncertain significance 79
- p.Ala35Thr Multiple submitters ⚠
- p.Arg108His Multiple submitters RPL15-related disorder ⚠
- p.Arg169Gln Multiple submitters ⚠
- p.Arg188His Multiple submitters Diamond-Blackfan anemia 12 ⚠
- p.Arg189Trp Multiple submitters ⚠
- p.Arg202Cys Multiple submitters ⚠
- p.Gly122Cys Multiple submitters ⚠
- p.Ile61Thr Multiple submitters ⚠
- p.Leu92Ile Multiple submitters ⚠
- p.Lys128Arg Multiple submitters ⚠
- p.Lys179Arg Multiple submitters Diamond-Blackfan anemia 12 ⚠
- p.Met19Val Multiple submitters
- p.Val60Ile Multiple submitters ⚠
- p.Val66Ile Multiple submitters ⚠
- c.173-19_173-18delinsTT Single submitter
- p.Ala102Pro Single submitter ⚠
- p.Ala95Ser Single submitter ⚠
- p.Arg108Ser Single submitter ⚠
- p.Arg114Thr Single submitter ⚠
- p.Arg12Lys Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg169Gly Single submitter ⚠
- p.Arg169Leu Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg193Lys Single submitter ⚠
- p.Arg195His Single submitter Diamond-Blackfan anemia 12
- p.Arg204= Single submitter
- p.Arg204Cys Single submitter ⚠
- p.Arg41Leu Single submitter ⚠
- p.Arg49Cys Single submitter ⚠
- p.Arg49His Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Asn117Asp Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asp46Glu Single submitter ⚠
- p.Gln149Arg Single submitter ⚠
- p.Gln15Arg Single submitter ⚠
- p.Gln29His Single submitter ⚠
- p.Gln29Lys Single submitter ⚠
- p.Gln57= Single submitter
- p.Gln8Pro Single submitter ⚠
- p.Gln99His Single submitter ⚠
- p.Gly107Ala Single submitter ⚠
- p.Gly185Ser Single submitter Diamond-Blackfan anemia 12 ⚠
- p.Gly82Ser Single submitter ⚠
- p.His181Asp Single submitter ⚠
- p.His86Arg Single submitter ⚠
- p.Ile135Met Single submitter ⚠
- p.Leu51Val Single submitter
- p.Lys128Thr Single submitter ⚠
- p.Lys153Thr Single submitter Diamond-Blackfan anemia 12 ⚠
- p.Lys179Asn Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Lys77= Single submitter Diamond-Blackfan anemia 12
- p.Phe129Tyr Single submitter ⚠
- p.Phe180Leu Single submitter ⚠
- p.Phe180Tyr Single submitter ⚠
- p.Pro137Gln Single submitter ⚠
- p.Pro154Ala Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Pro76fs Single submitter Diamond-Blackfan anemia 12
- p.Pro76Leu Single submitter ⚠
- p.Ser16Cys Single submitter
- p.Ser171Arg Single submitter ⚠
- p.Ser187Cys Single submitter ⚠
- p.Ser97Asn Single submitter ⚠
- p.Thr148Ser Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Trp28Cys Single submitter ⚠
- p.Tyr203His Single submitter ⚠
- p.Pro146Ala No assertion criteria ⚠
- p.Ser34Phe No assertion criteria ⚠