AAMDC — 18 ClinVar variants
All ClinVar germline AAMDC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Likely benign · 17 Uncertain significance
Full AAMDC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 12
The independent predictors disagree with each other — read with care.
- AAMDC p.Arg34Trp Uncertain significance Single submitter
- AAMDC p.Arg69Gln Uncertain significance Single submitter
- AAMDC p.Gly18Ala Uncertain significance Single submitter
- AAMDC p.Gly31Ala Uncertain significance Single submitter
- AAMDC p.Gly61Arg Uncertain significance Single submitter
- AAMDC p.Gly61Val Uncertain significance Single submitter
- AAMDC p.Leu107Phe Uncertain significance Single submitter
- AAMDC p.Leu85Phe Uncertain significance Single submitter
- AAMDC p.Lys17Glu Uncertain significance Single submitter
- AAMDC p.Lys86Arg Uncertain significance Single submitter
- AAMDC p.Pro47Leu Uncertain significance Single submitter
- AAMDC p.Thr35Ile Uncertain significance Single submitter
All AAMDC variants
Likely benign 1
- p.Thr2Ser Single submitter
Uncertain significance 17
- p.Arg34Trp Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly18Ala Single submitter ⚠
- p.Gly31Ala Single submitter ⚠
- p.Gly48Arg Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.Gly61Val Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Leu107Phe Single submitter ⚠
- p.Leu85Phe Single submitter ⚠
- p.Lys17Glu Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Val49Ala Single submitter ⚠