ACO1 — 130 ClinVar variants

All ClinVar germline ACO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

10 Benign · 1 Benign/Likely benign · 10 Likely benign · 109 Uncertain significance

Full ACO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 62

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

Predictors split 51

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

All ACO1 variants

Benign 10

p.Ala794= Multiple submitters
p.Asp569= Multiple submitters
p.His252= Multiple submitters
p.Ala395Asp Single submitter ⚠
p.Asp868= Single submitter
p.Glu421= Single submitter
p.Gly486Arg Single submitter ⚠
p.Gly812= Single submitter
p.Leu482= Single submitter
p.Tyr417= Single submitter

Benign/Likely benign 1

p.Pro443= Multiple submitters

Likely benign 10

c.*6G>A Single submitter
p.Ala861Val Single submitter ⚠
p.Gln832Arg Single submitter
p.Gly222= Single submitter
p.Ile643= Single submitter
p.Pro349Ser Single submitter
p.Pro92= Single submitter
p.Thr318= Single submitter
p.Val718Ile Single submitter ⚠
p.Val795Ile Single submitter ⚠

Uncertain significance 109

p.Ala665Val Multiple submitters ⚠
p.Arg885His Multiple submitters ⚠
p.Gly831Arg Multiple submitters ⚠
p.Ala286Val Single submitter ⚠
p.Ala339Ser Single submitter ⚠
p.Ala381Val Single submitter ⚠
p.Ala559Ser Single submitter ⚠
p.Ala717Thr Single submitter ⚠
p.Ala738Thr Single submitter ⚠
p.Ala826Val Single submitter ⚠
p.Arg168Gln Single submitter ⚠
p.Arg168Trp Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg269Leu Single submitter ⚠
p.Arg325His Single submitter ⚠
p.Arg34Cys Single submitter ⚠
p.Arg547Trp Single submitter ⚠
p.Arg694His Single submitter ⚠
p.Arg704Gln Single submitter ⚠
p.Arg712His Single submitter ⚠
p.Arg728His Single submitter ⚠
p.Arg82Cys Single submitter ⚠
p.Arg82His Single submitter ⚠
p.Arg834Gln Single submitter ⚠
p.Arg864Lys Single submitter ⚠
p.Arg885Pro Single submitter ⚠
p.Asn67Ser Single submitter ⚠
p.Asp121Gly Single submitter ⚠
p.Asp29Tyr Single submitter ⚠
p.Asp326Tyr Single submitter ⚠
p.Asp352Gly Single submitter ⚠
p.Asp51His Single submitter ⚠
p.Asp678Glu Single submitter ⚠
p.Asp751Glu Single submitter ⚠
p.Gln397Glu Single submitter ⚠
p.Gln583Arg Single submitter ⚠
p.Glu152Gly Single submitter ⚠
p.Glu421Lys Single submitter ⚠
p.Glu519Gly Single submitter ⚠
p.Glu75Gly Single submitter ⚠
p.Glu801Lys Single submitter ⚠
p.Gly222Cys Single submitter ⚠
p.Gly232Asp Single submitter ⚠
p.Gly284Arg Single submitter ⚠
p.Gly33Glu Single submitter ⚠
p.Gly460Ser Single submitter ⚠
p.Gly771Cys Single submitter ⚠
p.Gly877fs Single submitter
p.His252Tyr Single submitter ⚠
p.His409Arg Single submitter ⚠
p.His409Leu Single submitter ⚠
p.His543Leu Single submitter ⚠
p.His65Gln Single submitter ⚠
p.His71Gln Single submitter ⚠
p.Ile170Thr Single submitter ⚠
p.Ile211Thr Single submitter ⚠
p.Ile507Thr Single submitter ⚠
p.Ile60Thr Single submitter ⚠
p.Ile839Leu Single submitter ⚠
p.Ile839Val Single submitter ⚠
p.Ile884Val Single submitter ⚠
p.Leu288Phe Single submitter ⚠
p.Leu330Ile Single submitter ⚠
p.Lys141Glu Single submitter ⚠
p.Lys276Arg Single submitter ⚠
p.Lys785Arg Single submitter ⚠
p.Lys79Asn Single submitter ⚠
p.Met811Ile Single submitter ⚠
p.Met883Arg Single submitter ⚠
p.Met887Ile Single submitter ⚠
p.Phe22Val Single submitter ⚠
p.Phe280Leu Single submitter ⚠
p.Phe389Leu Single submitter ⚠
p.Phe402Leu Single submitter ⚠
p.Phe53Leu Single submitter ⚠
p.Phe648Leu Single submitter ⚠
p.Pro116Ala Single submitter ⚠
p.Pro119Arg Single submitter ⚠
p.Pro198Leu Single submitter ⚠
p.Pro373Ala Single submitter ⚠
p.Pro591Leu Single submitter ⚠
p.Pro840Leu Single submitter ⚠
p.Ser200Arg Single submitter ⚠
p.Ser289Pro Single submitter ⚠
p.Ser485Arg Single submitter ⚠
p.Ser690Gly Single submitter ⚠
p.Thr263Ser Single submitter ⚠
p.Thr702Ile Single submitter ⚠
p.Thr830Pro Single submitter ⚠
p.Trp159Arg Single submitter ⚠
p.Trp159Cys Single submitter ⚠
p.Trp590Arg Single submitter ⚠
p.Tyr303Cys Single submitter ⚠
p.Tyr336Cys Single submitter ⚠
p.Tyr417Phe Single submitter ⚠
p.Tyr613Cys Single submitter ⚠
p.Tyr642Phe Single submitter ⚠
p.Tyr709His Single submitter ⚠
p.Val123Ile Single submitter ⚠
p.Val202Met Single submitter ⚠
p.Val255Gly Single submitter ⚠
p.Val261Met Single submitter ⚠
p.Val321Leu Single submitter ⚠
p.Val498Met Single submitter ⚠
p.Val529Ile Single submitter ⚠
p.Val531Ala Single submitter ⚠
p.Val557Ile Single submitter ⚠
p.Val718Leu Single submitter ⚠
p.Val813Gly Single submitter ⚠