AOC3 — 152 ClinVar variants

All ClinVar germline AOC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

5 Benign · 1 Benign/Likely benign · 17 Likely benign · 129 Uncertain significance

Full AOC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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 50

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

Predictors split 83

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

All AOC3 variants

Benign 5

p.Ala582Thr Multiple submitters
p.Arg441Trp Multiple submitters ⚠
p.Ile371Thr Multiple submitters
p.Tyr406Asn Multiple submitters ⚠
p.Ala575= Single submitter

Benign/Likely benign 1

p.Arg329Gln Multiple submitters

Likely benign 17

p.Arg566Gln Multiple submitters
p.Tyr271= Multiple submitters
p.Ala421Thr Single submitter
p.Ala456Val Single submitter
p.Arg353Gly Single submitter ⚠
p.Arg726Gln Single submitter ⚠
p.Arg78Gln Single submitter
p.Asn699= Single submitter
p.Asp673= Single submitter
p.His203Arg Single submitter
p.Ile127= Single submitter
p.Leu578Pro Single submitter
p.Met465Val Single submitter
p.Ser581Gly Single submitter
p.Thr381Met Single submitter
p.Thr477Met Single submitter
p.Val647Ile Single submitter

Uncertain significance 129

p.Arg73Cys Multiple submitters ⚠
p.Ala124Thr Single submitter ⚠
p.Ala331Val Single submitter ⚠
p.Ala48Thr Single submitter ⚠
p.Ala503Val Single submitter ⚠
p.Ala524Val Single submitter ⚠
p.Ala670Gly Single submitter ⚠
p.Ala754Thr Single submitter ⚠
p.Arg122Trp Single submitter ⚠
p.Arg159His Single submitter ⚠
p.Arg159Leu Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg186Gly Single submitter ⚠
p.Arg223Trp Single submitter ⚠
p.Arg258Cys Single submitter ⚠
p.Arg258His Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg322His Single submitter ⚠
p.Arg353Pro Single submitter ⚠
p.Arg383Gly Single submitter ⚠
p.Arg383His Single submitter ⚠
p.Arg400Cys Single submitter ⚠
p.Arg400His Single submitter ⚠
p.Arg426Cys Single submitter ⚠
p.Arg488Gln Single submitter ⚠
p.Arg488Gly Single submitter ⚠
p.Arg561Gly Single submitter ⚠
p.Arg566Trp Single submitter ⚠
p.Arg585Cys Single submitter ⚠
p.Arg601Gln Single submitter ⚠
p.Arg623Lys Single submitter ⚠
p.Arg637Gln Single submitter ⚠
p.Arg706Gln Single submitter ⚠
p.Arg726Leu Single submitter ⚠
p.Arg73Gly Single submitter ⚠
p.Arg78Trp Single submitter ⚠
p.Arg90Gly Single submitter ⚠
p.Asn651Ser Single submitter ⚠
p.Asn666Asp Single submitter ⚠
p.Asp222Asn Single submitter ⚠
p.Asp272Asn Single submitter ⚠
p.Asp446Glu Single submitter ⚠
p.Asp476Gly Single submitter ⚠
p.Asp673Gly Single submitter ⚠
p.Asp721Asn Single submitter ⚠
p.Asp730Ala Single submitter ⚠
p.Asp730Asn Single submitter ⚠
p.Cys199Tyr Single submitter ⚠
p.Cys430Arg Single submitter ⚠
p.Cys748Arg Single submitter ⚠
p.Gln366Arg Single submitter ⚠
p.Gln37His Single submitter ⚠
p.Gln636Arg Single submitter ⚠
p.Gln77Arg Single submitter ⚠
p.Gln77His Single submitter ⚠
p.Glu140Gly Single submitter ⚠
p.Glu542Lys Single submitter ⚠
p.Glu570Asp Single submitter ⚠
p.Glu667Asp Single submitter ⚠
p.Glu713Lys Single submitter ⚠
p.Glu735Lys Single submitter ⚠
p.Gly161Ala Single submitter ⚠
p.Gly284Ser Single submitter ⚠
p.Gly297Cys Single submitter ⚠
p.Gly297Ser Single submitter ⚠
p.Gly298Ala Single submitter ⚠
p.Gly298Arg Single submitter ⚠
p.Gly320Val Single submitter ⚠
p.Gly387Val Single submitter ⚠
p.Gly401Arg Single submitter ⚠
p.Gly483Arg Single submitter ⚠
p.Gly508Arg Single submitter ⚠
p.Gly508Glu Single submitter ⚠
p.Gly758Glu Single submitter ⚠
p.His241Tyr Single submitter ⚠
p.His40Arg Single submitter ⚠
p.His514Leu Single submitter ⚠
p.His522Tyr Single submitter ⚠
p.Ile291Thr Single submitter ⚠
p.Leu125Pro Single submitter ⚠
p.Leu254Phe Single submitter ⚠
p.Leu535Val Single submitter ⚠
p.Leu569Val Single submitter ⚠
p.Leu79Arg Single submitter ⚠
p.Lys106Gln Single submitter ⚠
p.Lys263Asn Single submitter ⚠
p.Met380Val Single submitter ⚠
p.Met391Val Single submitter ⚠
p.Phe184Cys Single submitter ⚠
p.Phe344Leu Single submitter ⚠
p.Phe526Leu Single submitter ⚠
p.Phe725Leu Single submitter ⚠
p.Pro307Ala Single submitter ⚠
p.Pro307Ser Single submitter ⚠
p.Pro439Arg Single submitter ⚠
p.Pro54Ala Single submitter ⚠
p.Pro614Leu Single submitter ⚠
p.Pro616Leu Single submitter ⚠
p.Pro653Arg Single submitter ⚠
p.Pro656Ala Single submitter ⚠
p.Pro656His Single submitter ⚠
p.Pro743Ser Single submitter ⚠
p.Ser117Arg Single submitter ⚠
p.Ser324Gly Single submitter ⚠
p.Ser338Phe Single submitter ⚠
p.Ser345Gly Single submitter ⚠
p.Ser364Asn Single submitter ⚠
p.Ser419Tyr Single submitter ⚠
p.Ser466Pro Single submitter ⚠
p.Ser47Asn Single submitter ⚠
p.Ser497Leu Single submitter ⚠
p.Ser646Gly Single submitter ⚠
p.Ser761Pro Single submitter ⚠
p.Thr156Ile Single submitter ⚠
p.Thr213Met Single submitter ⚠
p.Thr296Ile Single submitter ⚠
p.Thr336Ser Single submitter ⚠
p.Thr381Ala Single submitter ⚠
p.Thr458Met Single submitter ⚠
p.Thr518Met Single submitter ⚠
p.Thr69Lys Single submitter ⚠
p.Tyr384His Single submitter ⚠
p.Tyr384Ser Single submitter ⚠
p.Tyr410Cys Single submitter ⚠
p.Val138Leu Single submitter ⚠
p.Val138Met Single submitter ⚠
p.Val14Ile Single submitter ⚠
p.Val431Met Single submitter ⚠
p.Val579Met Single submitter ⚠