RSU1 — 35 ClinVar variants
All ClinVar germline RSU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 2 Likely benign · 32 Uncertain significance
Full RSU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RSU1 p.Ala60Thr Uncertain significance Single submitter
- RSU1 p.Asn119Lys Uncertain significance Single submitter
- RSU1 p.Asn120Ser Uncertain significance Single submitter
- RSU1 p.Asn124Asp Uncertain significance Single submitter
- RSU1 p.Asn261Asp Uncertain significance Single submitter
- RSU1 p.Asn96Lys Uncertain significance Single submitter
- RSU1 p.Asp166Val Uncertain significance Single submitter
- RSU1 p.Gly106Cys Uncertain significance Single submitter
- RSU1 p.Leu101Met Uncertain significance Single submitter
- RSU1 p.Leu93Phe Uncertain significance Single submitter
- RSU1 p.Pro271Thr Uncertain significance Single submitter
- RSU1 p.Ser125Cys Uncertain significance Single submitter
- RSU1 p.Ser171Leu Uncertain significance Single submitter
- RSU1 p.Ser84Gly Uncertain significance Single submitter
- RSU1 p.Thr220Ser Uncertain significance Single submitter
- RSU1 p.Tyr140Cys Uncertain significance Single submitter
- RSU1 p.Tyr236Cys Uncertain significance Single submitter
- RSU1 p.Tyr246Cys Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- RSU1 p.Arg137His Uncertain significance Single submitter
- RSU1 p.Arg191Cys Uncertain significance Single submitter
- RSU1 p.Arg191Leu Uncertain significance Single submitter
- RSU1 p.Asn69Lys Uncertain significance Single submitter
- RSU1 p.Glu198Gln Uncertain significance Single submitter
- RSU1 p.Lys243Asn Uncertain significance Single submitter
- RSU1 p.Phe130Leu Uncertain significance Single submitter
- RSU1 p.Phe71Leu Uncertain significance Single submitter
- RSU1 p.Pro257Arg Uncertain significance Single submitter
- RSU1 p.Val113Ala Uncertain significance Single submitter
All RSU1 variants
Benign 1
- c.599-11_599-10insT Single submitter
Likely benign 2
- p.Glu235= Single submitter
- c.599-3del No assertion criteria
Uncertain significance 32
- p.Ala60Thr Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg191Leu Single submitter ⚠
- p.Asn119Lys Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn261Asp Single submitter ⚠
- p.Asn69Lys Single submitter ⚠
- p.Asn96Lys Single submitter ⚠
- p.Asp145Asn Single submitter
- p.Asp166Val Single submitter ⚠
- p.Glu198Gln Single submitter ⚠
- p.Gly106Cys Single submitter ⚠
- p.Gly154Arg Single submitter
- p.Leu101Met Single submitter ⚠
- p.Leu93Phe Single submitter ⚠
- p.Lys243Asn Single submitter ⚠
- p.Phe130Leu Single submitter ⚠
- p.Phe71Leu Single submitter ⚠
- p.Pro150Ser Single submitter
- p.Pro257Arg Single submitter ⚠
- p.Pro271Thr Single submitter ⚠
- p.Ser125Cys Single submitter ⚠
- p.Ser171Leu Single submitter ⚠
- p.Ser2Cys Single submitter
- p.Ser84Gly Single submitter ⚠
- p.Thr220Ser Single submitter ⚠
- p.Tyr140Cys Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Tyr246Cys Single submitter ⚠
- p.Val113Ala Single submitter ⚠