ACOT12 — 93 ClinVar variants

All ClinVar germline ACOT12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

7 Likely benign · 86 Uncertain significance

Full ACOT12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 49

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 37

The independent predictors disagree with each other — read with care.

All ACOT12 variants

Likely benign 7

p.Arg277Gln Single submitter
p.Ile442Val Single submitter
p.Ile486Val Single submitter
p.Lys159= Single submitter
p.Lys459Arg Single submitter
p.Thr373Ala Single submitter
p.Thr554Ile Single submitter

Uncertain significance 86

p.Ala107Val Single submitter ⚠
p.Ala113Pro Single submitter ⚠
p.Ala213Asp Single submitter ⚠
p.Ala274Gly Single submitter ⚠
p.Ala290Thr Single submitter ⚠
p.Ala358Ser Single submitter ⚠
p.Ala536Ser Single submitter ⚠
p.Ala65Asp Single submitter ⚠
p.Arg143Lys Single submitter ⚠
p.Arg236Trp Single submitter ⚠
p.Arg23His Single submitter ⚠
p.Arg244Pro Single submitter ⚠
p.Arg277Pro Single submitter ⚠
p.Arg279His Single submitter ⚠
p.Arg313His Single submitter ⚠
p.Arg313Leu Single submitter ⚠
p.Arg315Gln Single submitter ⚠
p.Arg320Cys Single submitter ⚠
p.Arg324Ser Single submitter ⚠
p.Arg405Cys Single submitter ⚠
p.Arg413Gln Single submitter ⚠
p.Arg457Gln Single submitter ⚠
p.Arg79Lys Single submitter ⚠
p.Asn199Ser Single submitter ⚠
p.Asn289Asp Single submitter ⚠
p.Asn511Tyr Single submitter ⚠
p.Asp231Val Single submitter ⚠
p.Asp417Tyr Single submitter ⚠
p.Asp433Asn Single submitter ⚠
p.Asp446Val Single submitter ⚠
p.Gln184Glu Single submitter ⚠
p.Gln271Arg Single submitter ⚠
p.Gln94Lys Single submitter ⚠
p.Glu101Lys Single submitter ⚠
p.Glu142Lys Single submitter ⚠
p.Glu160Lys Single submitter ⚠
p.Glu210Gln Single submitter ⚠
p.Glu260Ala Single submitter ⚠
p.Glu275Lys Single submitter ⚠
p.Glu375Lys Single submitter ⚠
p.Glu533Lys Single submitter ⚠
p.Gly203Cys Single submitter ⚠
p.Gly237Glu Single submitter ⚠
p.Gly29Glu Single submitter ⚠
p.Gly464Ser Single submitter ⚠
p.Gly550Arg Single submitter ⚠
p.His342Pro Single submitter ⚠
p.His46Tyr Single submitter ⚠
p.Ile438Val Single submitter ⚠
p.Ile486Leu Single submitter ⚠
p.Ile490Val Single submitter ⚠
p.Ile532Thr Single submitter ⚠
p.Leu103Arg Single submitter ⚠
p.Leu190Val Single submitter ⚠
p.Leu227Pro Single submitter ⚠
p.Lys447Gln Single submitter ⚠
p.Lys449Glu Single submitter ⚠
p.Lys462Arg Single submitter ⚠
p.Met85Thr Single submitter ⚠
p.Pro115Arg Single submitter ⚠
p.Pro115Leu Single submitter ⚠
p.Pro115Ser Single submitter ⚠
p.Pro192His Single submitter ⚠
p.Pro238Leu Single submitter ⚠
p.Pro305His Single submitter ⚠
p.Pro414Ala Single submitter ⚠
p.Pro414Thr Single submitter ⚠
p.Pro460Thr Single submitter ⚠
p.Pro481Leu Single submitter ⚠
p.Pro483Leu Single submitter ⚠
p.Pro4Leu Single submitter ⚠
p.Ser162Asn Single submitter ⚠
p.Ser218Arg Single submitter ⚠
p.Ser456Leu Single submitter ⚠
p.Ser473Leu Single submitter ⚠
p.Ser478Leu Single submitter ⚠
p.Ser50Phe Single submitter ⚠
p.Thr371Ile Single submitter ⚠
p.Trp273Ser Single submitter ⚠
p.Tyr485His Single submitter ⚠
p.Val106Met Single submitter ⚠
p.Val135Met Single submitter ⚠
p.Val189Ala Single submitter ⚠
p.Val230Ala Single submitter ⚠
p.Val370Gly Single submitter ⚠
p.Val479Asp Single submitter ⚠