ACOT7 — 59 ClinVar variants
All ClinVar germline ACOT7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
6 Benign · 6 Likely benign · 47 Uncertain significance
Full ACOT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT7 c.143+7603G>T Uncertain significance Single submitter
- ACOT7 c.143+7604C>T Uncertain significance Single submitter
- ACOT7 c.143+7615C>G Uncertain significance Single submitter
- ACOT7 c.143+7685G>A Uncertain significance Single submitter
- ACOT7 c.143+7699G>A Uncertain significance Single submitter
- ACOT7 c.143+7723A>G Uncertain significance Single submitter
- ACOT7 p.Ala366Ser Uncertain significance Single submitter
- ACOT7 p.Arg173Gln Uncertain significance Single submitter
- ACOT7 p.Arg173Gly Uncertain significance Single submitter
- ACOT7 p.Arg80Trp Uncertain significance Single submitter
- ACOT7 p.Asn86Ser Uncertain significance Single submitter
- ACOT7 p.Gln363Arg Uncertain significance Single submitter
- ACOT7 p.Glu297Lys Uncertain significance Single submitter
- ACOT7 p.Glu367Lys Uncertain significance Single submitter
- ACOT7 p.Glu98Gln Uncertain significance Single submitter
- ACOT7 p.Gly199Arg Uncertain significance Single submitter
- ACOT7 p.Gly199Glu Uncertain significance Single submitter
- ACOT7 p.Gly249Arg Uncertain significance Single submitter
- ACOT7 p.Gly353Arg Uncertain significance Single submitter
- ACOT7 p.Gly63Arg Uncertain significance Single submitter
- ACOT7 p.Gly64Ala Uncertain significance Single submitter
- ACOT7 p.Leu144Val Uncertain significance Single submitter
- ACOT7 p.Lys158Arg Uncertain significance Single submitter
- ACOT7 p.Pro370Arg Uncertain significance Single submitter
- ACOT7 p.Thr289Met Uncertain significance Single submitter
- ACOT7 p.Trp196Gly Uncertain significance Single submitter
- ACOT7 p.Val235Gly Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- ACOT7 c.143+7600C>T Uncertain significance Single submitter
- ACOT7 c.143+7615C>T Uncertain significance Single submitter
- ACOT7 c.143+7684C>T Uncertain significance Single submitter
- ACOT7 c.143+7705G>A Likely benign Single submitter
- ACOT7 c.143+7711G>A Uncertain significance Single submitter
- ACOT7 p.Ala366Thr Likely benign Single submitter
- ACOT7 p.Ala366Val Uncertain significance Single submitter
- ACOT7 p.Ala95Val Uncertain significance Single submitter
- ACOT7 p.Arg181Gln Uncertain significance Single submitter
- ACOT7 p.Arg330Trp Uncertain significance Single submitter
- ACOT7 p.Arg80Gln Uncertain significance Single submitter
- ACOT7 p.Arg89Cys Uncertain significance Single submitter
- ACOT7 p.Asn291Ser Uncertain significance Single submitter
- ACOT7 p.Asn60Ser Uncertain significance Single submitter
- ACOT7 p.Glu117Asp Uncertain significance Single submitter
- ACOT7 p.Glu178Asp Uncertain significance Single submitter
- ACOT7 p.Glu340Lys Uncertain significance Single submitter
- ACOT7 p.Gly87Arg Uncertain significance Single submitter
- ACOT7 p.Lys158Asn Uncertain significance Single submitter
- ACOT7 p.Ser309Pro Uncertain significance Single submitter
- ACOT7 p.Tyr313His Uncertain significance Single submitter
- ACOT7 p.Val251Met Uncertain significance Single submitter
All ACOT7 variants
Benign 6
- p.Asp266= Multiple submitters
- c.1014+8C>T Single submitter
- c.-62_-61insC Single submitter
- c.144-8956C>T No assertion criteria ACOT7-related disorder
- p.Thr341= No assertion criteria ACOT7-related disorder
- p.Val128= No assertion criteria ACOT7-related disorder
Likely benign 6
- c.143+7705G>A Single submitter ⚠
- p.Ala366Thr Single submitter ⚠
- p.His365Gln Single submitter
- c.143+7755T>C No assertion criteria ACOT7-related disorder
- c.144-10787G>A No assertion criteria ACOT7-related disorder
- p.Phe102= No assertion criteria ACOT7-related disorder
Uncertain significance 47
- c.143+7600C>T Single submitter ⚠
- c.143+7603G>T Single submitter ⚠
- c.143+7604C>T Single submitter ⚠
- c.143+7615C>G Single submitter ⚠
- c.143+7615C>T Single submitter ⚠
- c.143+7684C>T Single submitter ⚠
- c.143+7685G>A Single submitter ⚠
- c.143+7699G>A Single submitter ⚠
- c.143+7711G>A Single submitter ⚠
- c.143+7723A>G Single submitter ⚠
- p.Ala366Ser Single submitter ⚠
- p.Ala366Val Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg173Gly Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg330Trp Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Asn291Ser Single submitter ⚠
- p.Asn60Ser Single submitter ⚠
- p.Asn86Ser Single submitter ⚠
- p.Gln363Arg Single submitter ⚠
- p.Glu117Asp Single submitter ⚠
- p.Glu178Asp Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu340Lys Single submitter ⚠
- p.Glu367Lys Single submitter ⚠
- p.Glu98Gln Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly199Glu Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Gly353Arg Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.Gly64Ala Single submitter ⚠
- p.Gly87Arg Single submitter ⚠
- p.Leu144Val Single submitter ⚠
- p.Lys158Arg Single submitter ⚠
- p.Lys158Asn Single submitter ⚠
- p.Pro370Arg Single submitter ⚠
- p.Ser309Pro Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Trp196Gly Single submitter ⚠
- p.Tyr313His Single submitter ⚠
- p.Val235Gly Single submitter ⚠
- p.Val251Met Single submitter ⚠