ACAA1 — 70 ClinVar variants
All ClinVar germline ACAA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
2 Benign · 8 Likely benign · 60 Uncertain significance
Full ACAA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACAA1 p.Ala24Val Uncertain significance Single submitter
- ACAA1 p.Ala324Gly Uncertain significance Single submitter
- ACAA1 p.Ala33Thr Uncertain significance Single submitter
- ACAA1 p.Ala416Thr Uncertain significance Single submitter
- ACAA1 p.Arg167Cys Uncertain significance Single submitter
- ACAA1 p.Arg167His Uncertain significance Single submitter
- ACAA1 p.Arg289Gln Uncertain significance Single submitter
- ACAA1 p.Arg385Gln Uncertain significance Single submitter
- ACAA1 p.Arg45Leu Uncertain significance Single submitter
- ACAA1 p.Arg50Pro Uncertain significance Single submitter
- ACAA1 p.Asn163Ser Uncertain significance Single submitter
- ACAA1 p.Asn163Thr Uncertain significance Single submitter
- ACAA1 p.Cys26Phe Uncertain significance Single submitter
- ACAA1 p.Cys381Arg Uncertain significance Single submitter
- ACAA1 p.Gln122Glu Uncertain significance Single submitter
- ACAA1 p.Gln199Arg Uncertain significance Single submitter
- ACAA1 p.Gly29Ala Uncertain significance Single submitter
- ACAA1 p.Gly371Asp Uncertain significance Single submitter
- ACAA1 p.Gly410Arg Uncertain significance Single submitter
- ACAA1 p.Gly97Arg Uncertain significance Single submitter
- ACAA1 p.Met146Val Uncertain significance Single submitter
- ACAA1 p.Met153Leu Uncertain significance Single submitter
- ACAA1 p.Phe348Tyr Uncertain significance Single submitter
- ACAA1 p.Phe56Val Uncertain significance Single submitter
- ACAA1 p.Pro111Leu Uncertain significance Single submitter
- ACAA1 p.Pro161Thr Uncertain significance Single submitter
- ACAA1 p.Pro363Ala Uncertain significance Single submitter
- ACAA1 p.Ser117Phe Uncertain significance Single submitter
- ACAA1 p.Ser166Leu Uncertain significance Single submitter
- ACAA1 p.Ser17Ala Uncertain significance Single submitter
- ACAA1 p.Thr46Ala Uncertain significance Single submitter
- ACAA1 p.Val72Leu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- ACAA1 p.Glu172Asp Benign Multiple submitters
- ACAA1 p.Ala131Ser Uncertain significance Single submitter
- ACAA1 p.Arg12Lys Likely benign Single submitter
- ACAA1 p.Arg175Gly Uncertain significance Single submitter
- ACAA1 p.Arg397Cys Uncertain significance Single submitter
- ACAA1 p.Gly136Ser Uncertain significance Single submitter
- ACAA1 p.Gly140Arg Uncertain significance Single submitter
- ACAA1 p.Gly235Val Uncertain significance Single submitter
- ACAA1 p.Gly297Ser Uncertain significance Single submitter
- ACAA1 p.Gly333Glu Uncertain significance Single submitter
- ACAA1 p.Gly9Asp Uncertain significance Single submitter
- ACAA1 p.His10Tyr Uncertain significance Single submitter
- ACAA1 p.Ile137Val Uncertain significance Single submitter
- ACAA1 p.Ile223Thr Uncertain significance Single submitter
- ACAA1 p.Ile344Val Uncertain significance Single submitter
- ACAA1 p.Ile48Phe Uncertain significance Single submitter
- ACAA1 p.Leu168Phe Uncertain significance Single submitter
- ACAA1 p.Leu361Phe Uncertain significance Single submitter
- ACAA1 p.Leu83Met Uncertain significance Single submitter
- ACAA1 p.Met254Ile Uncertain significance Single submitter
- ACAA1 p.Pro362Leu Uncertain significance Single submitter
- ACAA1 p.Pro363Arg Uncertain significance Single submitter
- ACAA1 p.Ser17Phe Uncertain significance Single submitter
- ACAA1 p.Ser195Leu Uncertain significance Single submitter
- ACAA1 p.Ser66Leu Uncertain significance Single submitter
- ACAA1 p.Thr253Asn Uncertain significance Single submitter
- ACAA1 p.Thr270Ala Uncertain significance Single submitter
- ACAA1 p.Val130Met Uncertain significance Single submitter
- ACAA1 p.Val418Ile Uncertain significance Single submitter
- ACAA1 p.Val76Met Uncertain significance Single submitter
All ACAA1 variants
Benign 2
- p.Glu172Asp Multiple submitters ⚠
- p.Ser154= No assertion criteria ACAA1-related disorder
Likely benign 8
- p.Arg12Lys Single submitter ⚠
- p.Gln32Arg Single submitter
- c.546-4C>A No assertion criteria ACAA1-related disorder
- c.627-9T>C No assertion criteria ACAA1-related disorder
- p.Asp75Glu No assertion criteria ACAA1-related disorder
- p.Asp85= No assertion criteria ACAA1-related disorder
- p.Gln2= No assertion criteria ACAA1-related disorder
- p.Pro368= No assertion criteria ACAA1-related disorder
Uncertain significance 60
- p.Ala131Ser Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala324Gly Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala416Thr Single submitter ⚠
- p.Arg167Cys Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg175Gly Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg385Gln Single submitter ⚠
- p.Arg397Cys Single submitter ⚠
- p.Arg45Leu Single submitter ⚠
- p.Arg50Pro Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Asn163Thr Single submitter ⚠
- p.Cys26Phe Single submitter ⚠
- p.Cys381Arg Single submitter ⚠
- p.Gln122Glu Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Gly235Val Single submitter ⚠
- p.Gly297Ser Single submitter ⚠
- p.Gly29Ala Single submitter ⚠
- p.Gly333Glu Single submitter ⚠
- p.Gly371Asp Single submitter ⚠
- p.Gly410Arg Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.Gly9Asp Single submitter ⚠
- p.His10Tyr Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile344Val Single submitter ⚠
- p.Ile48Phe Single submitter ⚠
- p.Leu168Phe Single submitter ⚠
- p.Leu361Phe Single submitter ⚠
- p.Leu83Met Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Met153Leu Single submitter ⚠
- p.Met254Ile Single submitter ⚠
- p.Phe348Tyr Single submitter ⚠
- p.Phe56Val Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro161Thr Single submitter ⚠
- p.Pro362Leu Single submitter ⚠
- p.Pro363Ala Single submitter ⚠
- p.Pro363Arg Single submitter ⚠
- p.Ser117Phe Single submitter ⚠
- p.Ser166Leu Single submitter ⚠
- p.Ser17Ala Single submitter ⚠
- p.Ser17Phe Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Ser66Leu Single submitter ⚠
- p.Thr253Asn Single submitter ⚠
- p.Thr270Ala Single submitter ⚠
- p.Thr46Ala Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val418Ile Single submitter ⚠
- p.Val72Leu Single submitter ⚠
- p.Val76Met Single submitter ⚠