ACOT6 — 31 ClinVar variants
All ClinVar germline ACOT6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Likely benign · 30 Uncertain significance
Full ACOT6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT6 p.Ala376Thr Uncertain significance Single submitter
- ACOT6 p.Ala390Pro Uncertain significance Single submitter
- ACOT6 p.Asp277Asn Uncertain significance Single submitter
- ACOT6 p.Asp278His Uncertain significance Single submitter
- ACOT6 p.Asp326Gly Uncertain significance Single submitter
- ACOT6 p.Gln400Arg Uncertain significance Single submitter
- ACOT6 p.Glu387Lys Uncertain significance Single submitter
- ACOT6 p.Gly223Asp Uncertain significance Single submitter
- ACOT6 p.His345Tyr Uncertain significance Single submitter
- ACOT6 p.Ile352Val Uncertain significance Single submitter
- ACOT6 p.Leu279Val Uncertain significance Single submitter
- ACOT6 p.Lys286Asn Uncertain significance Single submitter
- ACOT6 p.Lys420Gln Uncertain significance Single submitter
- ACOT6 p.Met241Lys Uncertain significance Single submitter
- ACOT6 p.Ser225Gly Uncertain significance Single submitter
- ACOT6 p.Val316Met Uncertain significance Single submitter
- ACOT6 p.Val374Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ACOT6 p.Asp269Glu Uncertain significance Single submitter
- ACOT6 p.Asp269Tyr Uncertain significance Single submitter
- ACOT6 p.Gly235Val Uncertain significance Single submitter
- ACOT6 p.Gly288Val Uncertain significance Single submitter
- ACOT6 p.Phe405Val Uncertain significance Single submitter
- ACOT6 p.Trp296Ser Uncertain significance Single submitter
All ACOT6 variants
Likely benign 1
- p.His218= Single submitter
Uncertain significance 30
- p.Ala376Thr Single submitter ⚠
- p.Ala390Pro Single submitter ⚠
- p.Ala394Ser Single submitter
- p.Asn255Lys Single submitter
- p.Asp269Glu Single submitter ⚠
- p.Asp269Tyr Single submitter ⚠
- p.Asp277Asn Single submitter ⚠
- p.Asp278His Single submitter ⚠
- p.Asp326Gly Single submitter ⚠
- p.Gln400Arg Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Gly223Asp Single submitter ⚠
- p.Gly235Val Single submitter ⚠
- p.Gly288Val Single submitter ⚠
- p.His345Tyr Single submitter ⚠
- p.His391Asn Single submitter
- p.Ile352Val Single submitter ⚠
- p.Ile362Met Single submitter
- p.Leu279Val Single submitter ⚠
- p.Lys286Asn Single submitter ⚠
- p.Lys420Gln Single submitter ⚠
- p.Met241Lys Single submitter ⚠
- p.Phe405Val Single submitter ⚠
- p.Pro364Ser Single submitter
- p.Ser225Gly Single submitter ⚠
- p.Trp296Ser Single submitter ⚠
- p.Tyr267Cys Single submitter
- p.Val221Glu Single submitter
- p.Val316Met Single submitter ⚠
- p.Val374Ala Single submitter ⚠