ACOT1 — 67 ClinVar variants
All ClinVar germline ACOT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Pathogenic · 2 Conflicting · 4 Benign · 9 Likely benign · 51 Uncertain significance
Full ACOT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT1 p.Ala179Pro Uncertain significance Single submitter
- ACOT1 p.Ala335Ser Uncertain significance Single submitter
- ACOT1 p.Arg174Trp Uncertain significance Single submitter
- ACOT1 p.Arg266Cys Uncertain significance Single submitter
- ACOT1 p.Arg281His Uncertain significance Single submitter
- ACOT1 p.Asn328Ser Uncertain significance Single submitter
- ACOT1 p.Cys339Arg Uncertain significance Single submitter
- ACOT1 p.Gln351His Uncertain significance Single submitter
- ACOT1 p.Gln351Leu Uncertain significance Single submitter
- ACOT1 p.Glu220Lys Uncertain significance Single submitter
- ACOT1 p.Glu270Lys Uncertain significance Single submitter
- ACOT1 p.Gly117Glu Uncertain significance Single submitter
- ACOT1 p.Gly165Arg Uncertain significance Single submitter
- ACOT1 p.Gly227Arg Uncertain significance Single submitter
- ACOT1 p.Gly230Arg Uncertain significance Single submitter
- ACOT1 p.Gly234Glu Uncertain significance Single submitter
- ACOT1 p.Gly235Asp Uncertain significance Single submitter
- ACOT1 p.Gly262Arg Uncertain significance Single submitter
- ACOT1 p.Gly323Arg Uncertain significance Single submitter
- ACOT1 p.Ile248Val Uncertain significance Single submitter
- ACOT1 p.Ile309Thr Uncertain significance Single submitter
- ACOT1 p.Ile6Val Uncertain significance Single submitter
- ACOT1 p.Leu148Arg Uncertain significance Single submitter
- ACOT1 p.Lys306Met Uncertain significance Single submitter
- ACOT1 p.Met241Thr Uncertain significance Single submitter
- ACOT1 p.Pro18Thr Uncertain significance Single submitter
- ACOT1 p.Ser307Asn Uncertain significance Single submitter
- ACOT1 p.Thr264Ile Uncertain significance Single submitter
- ACOT1 p.Val139Gly Uncertain significance Single submitter
- ACOT1 p.Val261Ala Uncertain significance Single submitter
- ACOT1 p.Val277Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ACOT1 p.Ala67Pro Uncertain significance Single submitter
- ACOT1 p.Arg145Gly Uncertain significance Single submitter
- ACOT1 p.Arg371Trp Uncertain significance Single submitter
- ACOT1 p.Asp162Asn Uncertain significance Single submitter
- ACOT1 p.Gly225Glu Uncertain significance Single submitter
- ACOT1 p.Leu369Pro Uncertain significance Single submitter
- ACOT1 p.Lys283Asn Uncertain significance Single submitter
- ACOT1 p.Met186Thr Uncertain significance Single submitter
- ACOT1 p.Pro274Arg Uncertain significance Single submitter
- ACOT1 p.Thr202Met Uncertain significance Single submitter
- ACOT1 p.Tyr128Asp Likely benign Single submitter
- ACOT1 p.Tyr267Cys Uncertain significance Single submitter
- ACOT1 p.Tyr361Cys Uncertain significance Single submitter
- ACOT1 p.Val123Met Uncertain significance Single submitter
- ACOT1 p.Val252Ile Uncertain significance Single submitter
All ACOT1 variants
Pathogenic 1
- p.Glu137fs No assertion criteria Generalized hypotonia
Conflicting classifications of pathogenicity 2
- p.Pro89Ser Single submitter ⚠
- p.Tyr128Cys Single submitter ⚠
Benign 4
- p.Ala50= Multiple submitters
- p.Gly276Ala Multiple submitters
- p.Val275Ala Multiple submitters
- p.Glu29Lys Single submitter
Likely benign 9
- p.His413Arg Multiple submitters
- p.Pro89= Multiple submitters
- p.Cys121Gly Single submitter
- p.His125Gln Single submitter
- p.Thr202fs Single submitter
- p.Thr56= Single submitter
- p.Tyr128Asp Single submitter ⚠
- p.Val123Ala Single submitter
- p.Val284Met Single submitter
Uncertain significance 51
- p.Ala179Pro Single submitter ⚠
- p.Ala187Val Single submitter
- p.Ala335Ser Single submitter ⚠
- p.Ala67Pro Single submitter ⚠
- p.Arg145Gly Single submitter ⚠
- p.Arg174Gln Single submitter
- p.Arg174Trp Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg371Trp Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asp162Asn Single submitter ⚠
- p.Asp16Asn Single submitter
- p.Cys339Arg Single submitter ⚠
- p.Gln351His Single submitter ⚠
- p.Gln351Leu Single submitter ⚠
- p.Glu220Lys Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Gly117Glu Single submitter ⚠
- p.Gly165Arg Single submitter ⚠
- p.Gly225Glu Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly230Arg Single submitter ⚠
- p.Gly234Glu Single submitter ⚠
- p.Gly235Asp Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly323Arg Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile352Asn Single submitter
- p.Ile6Val Single submitter ⚠
- p.Leu148Arg Single submitter ⚠
- p.Leu369Pro Single submitter ⚠
- p.Lys283Asn Single submitter ⚠
- p.Lys306Met Single submitter ⚠
- p.Met186Thr Single submitter ⚠
- p.Met241Thr Single submitter ⚠
- p.Pro101Leu Single submitter
- p.Pro18Thr Single submitter ⚠
- p.Pro274Arg Single submitter ⚠
- p.Ser307Asn Single submitter ⚠
- p.Thr202Met Single submitter ⚠
- p.Thr264Ile Single submitter ⚠
- p.Tyr267Cys Single submitter ⚠
- p.Tyr361Cys Single submitter ⚠
- p.Val108Met Single submitter
- p.Val123Met Single submitter ⚠
- p.Val139Gly Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val261Ala Single submitter ⚠
- p.Val277Ile Single submitter ⚠