RPL35 — 76 ClinVar variants
All ClinVar germline RPL35 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Pathogenic · 4 Benign · 2 Benign/Likely benign · 36 Likely benign · 33 Uncertain significance
Full RPL35 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL35 p.Ala120Thr Uncertain significance Multiple submitters
- RPL35 p.Arg109Gln Uncertain significance Multiple submitters
- RPL35 p.Arg109Leu Uncertain significance Multiple submitters
- RPL35 p.Arg117Gln Uncertain significance Multiple submitters
- RPL35 p.Ile47Met Uncertain significance Multiple submitters
- RPL35 p.Ala120Ser Uncertain significance Single submitter
- RPL35 p.Ala120Val Uncertain significance Single submitter
- RPL35 p.Arg10Cys Uncertain significance Single submitter
- RPL35 p.Arg32His Uncertain significance Single submitter
- RPL35 p.Arg93Cys Uncertain significance Single submitter
- RPL35 p.Gln107His Uncertain significance Single submitter
- RPL35 p.Glu16Asp Uncertain significance Single submitter
- RPL35 p.Leu58Val Uncertain significance Single submitter
- RPL35 p.Leu9Phe Uncertain significance Single submitter
- RPL35 p.Lys110Glu Uncertain significance Single submitter
- RPL35 p.Lys35Arg Uncertain significance Single submitter
- RPL35 p.Lys35Glu Uncertain significance Single submitter
- RPL35 p.Thr64Ala Uncertain significance Single submitter
- RPL35 p.Val121Gly Uncertain significance Single submitter
-
RPL35 p.Arg84Gln
Uncertain significance
No assertion criteria
RPL35-related disorder
- RPL35 p.Arg84Trp Uncertain significance No assertion criteria
Predictors split 8
The independent predictors disagree with each other — read with care.
- RPL35 p.Arg112Trp Uncertain significance Multiple submitters
- RPL35 p.Arg94Trp Uncertain significance Multiple submitters
- RPL35 p.His98Gln Uncertain significance Multiple submitters
- RPL35 p.Arg112Gln Uncertain significance Single submitter
- RPL35 p.Arg94Gln Likely benign Single submitter
- RPL35 p.Ile54Val Uncertain significance Single submitter
- RPL35 p.Lys106Gln Uncertain significance Single submitter
-
RPL35 p.Lys77Asn
Pathogenic
No assertion criteria
Diamond-Blackfan anemia 19
All RPL35 variants
Pathogenic 1
- p.Lys77Asn No assertion criteria Diamond-Blackfan anemia 19 ⚠
Benign 4
- c.4-22G>C Multiple submitters
- c.223-136_223-135del Single submitter
- p.Pro115= Single submitter
- p.Tyr119= Single submitter
Benign/Likely benign 2
- c.223-10T>C Multiple submitters
- p.Arg32= Multiple submitters
Likely benign 36
- c.140+15C>G Multiple submitters
- p.Leu28= Multiple submitters
- c.140+11C>T Single submitter
- c.222+19A>G Single submitter
- c.222+20G>C Single submitter
- c.223-13G>A Single submitter
- c.223-14C>T Single submitter
- c.223-7C>T Single submitter
- c.223-9G>A Single submitter
- c.3+11C>T Single submitter
- c.3+16T>A Single submitter
- c.3+18G>C Single submitter
- c.3+20G>A Single submitter
- c.4-15C>G Single submitter
- c.4-17C>T Single submitter
- c.4-17CT[2] Single submitter
- c.4-17CT[3] Single submitter
- c.4-5C>T Single submitter
- p.Ala120= Single submitter
- p.Arg10= Single submitter
- p.Arg117= Single submitter
- p.Arg70= Single submitter
- p.Arg84= Single submitter
- p.Arg89= Single submitter
- p.Arg92= Single submitter
- p.Arg94Gln Single submitter ⚠
- p.Asn101His Single submitter
- p.Asp23= Single submitter
- p.His98= Single submitter
- p.Ile4= Single submitter
- p.Leu116= Single submitter
- p.Leu83= Single submitter
- p.Thr37= Single submitter
- p.Thr88= Single submitter
- p.Val49= Single submitter
- c.*9T>G No assertion criteria RPL35-related disorder
Uncertain significance 33
- p.Ala120Thr Multiple submitters ⚠
- p.Arg109Gln Multiple submitters ⚠
- p.Arg109Leu Multiple submitters ⚠
- p.Arg112Trp Multiple submitters ⚠
- p.Arg117Gln Multiple submitters ⚠
- p.Arg94Trp Multiple submitters ⚠
- p.His98Gln Multiple submitters ⚠
- p.Ile47Met Multiple submitters ⚠
- p.Pro115Leu Multiple submitters
- c.223-3C>T Single submitter
- c.3+3G>A Single submitter
- c.3+4A>G Single submitter
- p.Ala120Ser Single submitter ⚠
- p.Ala120Val Single submitter ⚠
- p.Arg10Cys Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Gln107His Single submitter ⚠
- p.Glu16Asp Single submitter ⚠
- p.Ile54Val Single submitter ⚠
- p.Leu58Val Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys106Gln Single submitter ⚠
- p.Lys110Glu Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Lys35Glu Single submitter ⚠
- p.Lys74= Single submitter
- p.Thr64Ala Single submitter ⚠
- p.Val121Gly Single submitter ⚠
- p.Val50Ile Single submitter
- p.Arg84Gln No assertion criteria RPL35-related disorder ⚠
- p.Arg84Trp No assertion criteria ⚠