AARSD1 — 53 ClinVar variants
All ClinVar germline AARSD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Likely benign · 50 Uncertain significance
Full AARSD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AARSD1 p.Ala24Pro Uncertain significance Single submitter
- AARSD1 p.Asn331Ser Uncertain significance Single submitter
- AARSD1 p.Gln107Arg Uncertain significance Single submitter
- AARSD1 p.Gln398Leu Uncertain significance Single submitter
- AARSD1 p.Glu140Gln Uncertain significance Single submitter
- AARSD1 p.Gly194Glu Uncertain significance Single submitter
- AARSD1 p.Gly321Val Uncertain significance Single submitter
- AARSD1 p.Gly55Arg Uncertain significance Single submitter
- AARSD1 p.Gly56Glu Uncertain significance Single submitter
- AARSD1 p.His302Arg Uncertain significance Single submitter
- AARSD1 p.Lys387Met Uncertain significance Single submitter
- AARSD1 p.Met395Leu Uncertain significance Single submitter
- AARSD1 p.Ser39Arg Uncertain significance Single submitter
- AARSD1 p.Thr116Met Uncertain significance Single submitter
- AARSD1 p.Thr212Ser Uncertain significance Single submitter
- AARSD1 p.Thr407Ala Uncertain significance Single submitter
- AARSD1 p.Trp310Leu Uncertain significance Single submitter
- AARSD1 p.Val151Ile Uncertain significance Single submitter
- AARSD1 p.Val314Ala Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- AARSD1 p.Ala24Val Uncertain significance Single submitter
- AARSD1 p.Ala262Val Uncertain significance Single submitter
- AARSD1 p.Ala360Val Uncertain significance Single submitter
- AARSD1 p.Ala397Val Likely benign Single submitter
- AARSD1 p.Ala399Val Uncertain significance Single submitter
- AARSD1 p.Arg101Gln Uncertain significance Single submitter
- AARSD1 p.Arg165Trp Uncertain significance Single submitter
- AARSD1 p.Arg186Gln Uncertain significance Single submitter
- AARSD1 p.Arg368Ser Uncertain significance Single submitter
- AARSD1 p.Arg383Cys Uncertain significance Single submitter
- AARSD1 p.Arg393Trp Uncertain significance Single submitter
- AARSD1 p.Arg75Leu Uncertain significance Single submitter
- AARSD1 p.Asp142Glu Uncertain significance Single submitter
- AARSD1 p.Asp176Tyr Uncertain significance Single submitter
- AARSD1 p.Asp59Asn Uncertain significance Single submitter
- AARSD1 p.Glu149Lys Uncertain significance Single submitter
- AARSD1 p.Glu179Lys Uncertain significance Single submitter
- AARSD1 p.Glu25Lys Uncertain significance Single submitter
- AARSD1 p.Glu332Lys Uncertain significance Single submitter
- AARSD1 p.Glu374Asp Uncertain significance Single submitter
- AARSD1 p.Gly312Ser Uncertain significance Single submitter
- AARSD1 p.Gly350Val Uncertain significance Single submitter
- AARSD1 p.His271Leu Uncertain significance Single submitter
- AARSD1 p.Ile64Val Uncertain significance Single submitter
- AARSD1 p.Leu122Ile Uncertain significance Single submitter
- AARSD1 p.Leu296Val Uncertain significance Single submitter
- AARSD1 p.Leu342Val Uncertain significance Single submitter
- AARSD1 p.Thr116Ala Uncertain significance Single submitter
- AARSD1 p.Thr15Ser Uncertain significance Single submitter
- AARSD1 p.Thr407Met Uncertain significance Single submitter
- AARSD1 p.Thr73Ile Uncertain significance Single submitter
- AARSD1 p.Val298Met Uncertain significance Single submitter
All AARSD1 variants
Likely benign 3
- p.Ala397Val Single submitter ⚠
- p.Arg96Gln Single submitter
- p.Gly350Ala Single submitter
Uncertain significance 50
- p.Ala24Pro Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala399Val Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg165Trp Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg368Ser Single submitter ⚠
- p.Arg383Cys Single submitter ⚠
- p.Arg393Trp Single submitter ⚠
- p.Arg75Leu Single submitter ⚠
- p.Asn331Ser Single submitter ⚠
- p.Asp142Glu Single submitter ⚠
- p.Asp176Tyr Single submitter ⚠
- p.Asp59Asn Single submitter ⚠
- p.Gln107Arg Single submitter ⚠
- p.Gln398Leu Single submitter ⚠
- p.Glu140Gln Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu25Lys Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Glu374Asp Single submitter ⚠
- p.Gly194Glu Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.Gly321Val Single submitter ⚠
- p.Gly350Val Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.Gly56Glu Single submitter ⚠
- p.His271Leu Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Leu122Ile Single submitter ⚠
- p.Leu296Val Single submitter ⚠
- p.Leu342Val Single submitter ⚠
- p.Lys387Met Single submitter ⚠
- p.Met395Leu Single submitter ⚠
- p.Ser39Arg Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr116Met Single submitter ⚠
- p.Thr15Ser Single submitter ⚠
- p.Thr212Ser Single submitter ⚠
- p.Thr407Ala Single submitter ⚠
- p.Thr407Met Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Trp310Leu Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val298Met Single submitter ⚠
- p.Val314Ala Single submitter ⚠