AADAT — 22 ClinVar variants
All ClinVar germline AADAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Likely benign · 20 Uncertain significance
Full AADAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AADAT p.Arg212Cys Uncertain significance Single submitter
- AADAT p.Asn201Ser Uncertain significance Single submitter
- AADAT p.Cys122Tyr Uncertain significance Single submitter
- AADAT p.Gln300Arg Uncertain significance Single submitter
- AADAT p.Met127Ile Uncertain significance Single submitter
- AADAT p.Met67Leu Uncertain significance Single submitter
- AADAT p.Phe355Leu Uncertain significance Single submitter
- AADAT p.Ser148Thr Uncertain significance Single submitter
- AADAT p.Tyr326Cys Uncertain significance Single submitter
- AADAT p.Val322Leu Uncertain significance Single submitter
- AADAT p.Val416Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- AADAT p.Asp133Asn Uncertain significance Single submitter
- AADAT p.Glu215Lys Uncertain significance Single submitter
- AADAT p.Gly153Ser Uncertain significance Single submitter
- AADAT p.Ile421Val Uncertain significance Single submitter
- AADAT p.Leu382Phe Uncertain significance Single submitter
- AADAT p.Met22Lys Uncertain significance Single submitter
- AADAT p.Met68Thr Uncertain significance Single submitter
- AADAT p.Val284Leu Uncertain significance Single submitter
All AADAT variants
Likely benign 2
- p.Met381Leu Single submitter
- p.Val389Ile Single submitter
Uncertain significance 20
- p.41PN[1] Single submitter
- p.Arg212Cys Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Cys122Tyr Single submitter ⚠
- p.Gln300Arg Single submitter ⚠
- p.Glu215Lys Single submitter ⚠
- p.Gly153Ser Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Leu382Phe Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Met22Lys Single submitter ⚠
- p.Met67Leu Single submitter ⚠
- p.Met68Thr Single submitter ⚠
- p.Phe355Leu Single submitter ⚠
- p.Ser148Thr Single submitter ⚠
- p.Tyr326Cys Single submitter ⚠
- p.Val284Leu Single submitter ⚠
- p.Val322Leu Single submitter ⚠
- p.Val416Leu Single submitter ⚠