AOPEP — 34 ClinVar variants
All ClinVar germline AOPEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
4 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 1 Benign · 6 Likely benign · 16 Uncertain significance
Full AOPEP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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AOPEP p.Arg665Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Arg767Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Arg767Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AOPEP p.Gly469Arg Uncertain significance Single submitter
-
AOPEP p.His116Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Ile43Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Lys579Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Lys757Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AOPEP p.Tyr205Cys Uncertain significance Single submitter
-
AOPEP p.Tyr586His
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 6
The independent predictors disagree with each other — read with care.
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AOPEP p.Arg401Trp
Uncertain significance
Multiple submitters
dystonia 31
- AOPEP p.Arg537Cys Uncertain significance Single submitter
-
AOPEP p.Arg801Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- AOPEP p.Glu48Lys Uncertain significance Single submitter
-
AOPEP p.Leu673Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AOPEP p.Val84Met
Uncertain significance
Single submitter
Inborn genetic diseases
All AOPEP variants
Pathogenic 4
- c.964+2T>G Single submitter dystonia 31
- p.Arg493Ter Single submitter dystonia 31
- p.Met582fs Single submitter dystonia 31
- p.Trp259Ter No assertion criteria dystonia 31
Likely pathogenic 6
- p.Gln235Ter Multiple submitters dystonia 31
- p.Arg230fs Single submitter dystonia 31
- p.Arg255Ter Single submitter dystonia 31
- p.Lys73fs Single submitter dystonia 31
- p.Tyr736Ter Single submitter dystonia 31
- p.Val406fs Single submitter AOPEP-related disorder
Conflicting classifications of pathogenicity 1
- p.Cys378fs Single submitter dystonia 31
Benign 1
- p.Ser103Asn Multiple submitters
Likely benign 6
Uncertain significance 16
- p.Arg401Trp Multiple submitters dystonia 31 ⚠
- p.Arg537Cys Single submitter ⚠
- p.Arg665Cys Single submitter Inborn genetic diseases ⚠
- p.Arg767Lys Single submitter Inborn genetic diseases ⚠
- p.Arg767Ser Single submitter Inborn genetic diseases ⚠
- p.Arg801Trp Single submitter Inborn genetic diseases ⚠
- p.Glu48Lys Single submitter ⚠
- p.Gly469Arg Single submitter ⚠
- p.His116Arg Single submitter Inborn genetic diseases ⚠
- p.Ile43Val Single submitter Inborn genetic diseases ⚠
- p.Leu673Phe Single submitter Inborn genetic diseases ⚠
- p.Lys579Arg Single submitter Inborn genetic diseases ⚠
- p.Lys757Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr205Cys Single submitter ⚠
- p.Tyr586His Single submitter Inborn genetic diseases ⚠
- p.Val84Met Single submitter Inborn genetic diseases ⚠