SERPINA3 — 109 ClinVar variants
All ClinVar germline SERPINA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Pathogenic · 3 Conflicting · 9 Benign · 1 Benign/Likely benign · 25 Likely benign · 70 Uncertain significance
Full SERPINA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SERPINA3 p.Arg298Gln Conflicting Single submitter
-
SERPINA3 p.Ile80Val
Conflicting
Single submitter
Antichymotrypsin deficiency-alpha-1
- SERPINA3 p.Pro25Ser Conflicting Single submitter
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.
- SERPINA3 p.Val65Gly Uncertain significance Multiple submitters
- SERPINA3 p.Ala157Val Uncertain significance Single submitter
- SERPINA3 p.Ala20Pro Uncertain significance Single submitter
- SERPINA3 p.Ala423Thr Uncertain significance Single submitter
- SERPINA3 p.Ala423Val Uncertain significance Single submitter
- SERPINA3 p.Ala83Ser Uncertain significance Single submitter
- SERPINA3 p.Arg124His Uncertain significance Single submitter
- SERPINA3 p.Arg394Cys Uncertain significance Single submitter
- SERPINA3 p.Arg394His Uncertain significance Single submitter
- SERPINA3 p.Asn127Ser Uncertain significance Single submitter
- SERPINA3 p.Asn325Thr Uncertain significance Single submitter
- SERPINA3 p.Asn53Ser Uncertain significance Single submitter
- SERPINA3 p.Asp200Asn Uncertain significance Single submitter
- SERPINA3 p.Asp222Glu Uncertain significance Single submitter
- SERPINA3 p.Asp301Asn Uncertain significance Single submitter
- SERPINA3 p.Asp326Asn Uncertain significance Single submitter
- SERPINA3 p.Asp40Glu Uncertain significance Single submitter
- SERPINA3 p.Gln120Arg Uncertain significance Single submitter
- SERPINA3 p.Glu109Val Uncertain significance Single submitter
- SERPINA3 p.Glu164Lys Uncertain significance Single submitter
- SERPINA3 p.Glu307Asp Uncertain significance Single submitter
- SERPINA3 p.Glu368Gln Uncertain significance Single submitter
- SERPINA3 p.Gly270Arg Uncertain significance Single submitter
- SERPINA3 p.His227Tyr Uncertain significance Single submitter
- SERPINA3 p.His248Tyr Uncertain significance Single submitter
- SERPINA3 p.His359Gln Uncertain significance Single submitter
- SERPINA3 p.Ile211Leu Uncertain significance Single submitter
- SERPINA3 p.Ile211Thr Uncertain significance Single submitter
- SERPINA3 p.Ile251Met Uncertain significance Single submitter
- SERPINA3 p.Ile333Leu Uncertain significance Single submitter
- SERPINA3 p.Leu233Phe Uncertain significance Single submitter
- SERPINA3 p.Leu278Pro Uncertain significance Single submitter
- SERPINA3 p.Leu329Phe Uncertain significance Single submitter
- SERPINA3 p.Leu363His Uncertain significance Single submitter
- SERPINA3 p.Leu78Arg Uncertain significance Single submitter
-
SERPINA3 p.Met414Val
Uncertain significance
Single submitter
peripheral arterial occlusive disease 1
- SERPINA3 p.Phe17Val Uncertain significance Single submitter
- SERPINA3 p.Pro242Ser Uncertain significance Single submitter
- SERPINA3 p.Pro420His Uncertain significance Single submitter
- SERPINA3 p.Pro6Leu Uncertain significance Single submitter
- SERPINA3 p.Ser260Phe Uncertain significance Single submitter
- SERPINA3 p.Ser27Ile Uncertain significance Single submitter
- SERPINA3 p.Ser51Tyr Uncertain significance Single submitter
- SERPINA3 p.Thr193Lys Uncertain significance Single submitter
- SERPINA3 p.Thr43Ile Uncertain significance Single submitter
- SERPINA3 p.Tyr253Asp Uncertain significance Single submitter
- SERPINA3 p.Val387Glu Uncertain significance Single submitter
- SERPINA3 p.Val45Met Uncertain significance Single submitter
- SERPINA3 p.Arg124Gly Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
- SERPINA3 p.Ala274Thr Uncertain significance Single submitter
- SERPINA3 p.Ala372Gly Uncertain significance Single submitter
- SERPINA3 p.Ala374Thr Uncertain significance Single submitter
- SERPINA3 p.Ala50Pro Uncertain significance Single submitter
- SERPINA3 p.Ala52Thr Likely benign Single submitter
- SERPINA3 p.Asp326Val Uncertain significance Single submitter
- SERPINA3 p.Phe395Leu Uncertain significance Single submitter
- SERPINA3 p.Pro242Thr Uncertain significance Single submitter
- SERPINA3 p.Ser415Arg Uncertain significance Single submitter
- SERPINA3 p.Thr108Met Uncertain significance Single submitter
- SERPINA3 p.Thr226Ser Uncertain significance Single submitter
- SERPINA3 p.Thr338Ile Uncertain significance Single submitter
- SERPINA3 p.Thr95Pro Uncertain significance Single submitter
- SERPINA3 p.Tyr161Cys Uncertain significance Single submitter
- SERPINA3 p.Tyr232Asp Uncertain significance Single submitter
- SERPINA3 p.Val184Met Uncertain significance Single submitter
All SERPINA3 variants
Pathogenic 1
- p.Leu78Pro No assertion criteria ANTICHYMOTRYPSIN BOCHUM 1
Conflicting classifications of pathogenicity 3
- p.Arg298Gln Single submitter ⚠
- p.Ile80Val Single submitter Antichymotrypsin deficiency-alpha-1 ⚠
- p.Pro25Ser Single submitter ⚠
Benign 9
- p.Ala274= Multiple submitters
- p.Ala9Thr Multiple submitters
- p.Leu266= Multiple submitters
- p.Lys101= Multiple submitters
- p.Phe86= Multiple submitters
- p.Ser201= Multiple submitters
- p.Ser59= Single submitter
- p.Ser273= No assertion criteria SERPINA3-related disorder
- p.Thr347= No assertion criteria SERPINA3-related disorder
Benign/Likely benign 1
- p.Leu12= Multiple submitters
Likely benign 25
- p.Pro252Ala Multiple submitters Antichymotrypsin deficiency-alpha-1
- c.918-9G>A Single submitter
- c.*7C>A Single submitter
- p.Ala52Thr Single submitter ⚠
- p.Gly190= Single submitter
- p.Gly309Asp Single submitter
- p.Gly48Arg Single submitter
- p.His24Tyr Single submitter
- p.Lys177Glu Single submitter
- p.Lys237Arg Single submitter
- p.Lys416fs Single submitter
- p.Lys62= Single submitter
- p.Met137Val Single submitter
- p.Met204Val Single submitter
- p.Met290Ile Single submitter
- p.Ser136Asn Single submitter
- p.Thr154Met Single submitter
- p.Thr262= Single submitter
- p.Thr338= Single submitter
- p.Thr418= Single submitter
- p.Val54Met Single submitter
- c.-6T>C No assertion criteria SERPINA3-related disorder
- p.His121= No assertion criteria SERPINA3-related disorder
- p.Leu47= No assertion criteria SERPINA3-related disorder
- p.Ser319= No assertion criteria SERPINA3-related disorder
Uncertain significance 70
- p.Val65Gly Multiple submitters ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala20Pro Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala372Gly Single submitter ⚠
- p.Ala374Thr Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala50Pro Single submitter ⚠
- p.Ala83Ser Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg124Pro Single submitter
- p.Arg394Cys Single submitter ⚠
- p.Arg394His Single submitter ⚠
- p.Arg394Pro Single submitter
- p.Asn127Ser Single submitter ⚠
- p.Asn325Thr Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asp200Asn Single submitter ⚠
- p.Asp222Glu Single submitter ⚠
- p.Asp301Asn Single submitter ⚠
- p.Asp326Asn Single submitter ⚠
- p.Asp326Val Single submitter ⚠
- p.Asp40Glu Single submitter ⚠
- p.Gln120Arg Single submitter ⚠
- p.Gln202fs Single submitter SERPINA3-related disorder
- p.Glu109Val Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Glu310delinsPheTer Single submitter
- p.Glu368Gln Single submitter ⚠
- p.Gly190Val Single submitter
- p.Gly270Arg Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.His248Tyr Single submitter ⚠
- p.His359Gln Single submitter ⚠
- p.Ile211Leu Single submitter ⚠
- p.Ile211Thr Single submitter ⚠
- p.Ile251Met Single submitter ⚠
- p.Ile333Leu Single submitter ⚠
- p.Leu233Phe Single submitter ⚠
- p.Leu278Pro Single submitter ⚠
- p.Leu329Phe Single submitter ⚠
- p.Leu363His Single submitter ⚠
- p.Leu78Arg Single submitter ⚠
- p.Met414Val Single submitter peripheral arterial occlusive disease 1 ⚠
- p.Phe17Val Single submitter ⚠
- p.Phe395Leu Single submitter ⚠
- p.Pro242Ser Single submitter ⚠
- p.Pro242Thr Single submitter ⚠
- p.Pro420His Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Ser260Phe Single submitter ⚠
- p.Ser273Arg Single submitter
- p.Ser27Ile Single submitter ⚠
- p.Ser415Arg Single submitter ⚠
- p.Ser51Tyr Single submitter ⚠
- p.Thr108Met Single submitter ⚠
- p.Thr193Lys Single submitter ⚠
- p.Thr226Ser Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Thr95Pro Single submitter ⚠
- p.Tyr161Cys Single submitter ⚠
- p.Tyr232Asp Single submitter ⚠
- p.Tyr253Asp Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val387Glu Single submitter ⚠
- p.Val45Met Single submitter ⚠
- p.Arg124Gly No assertion criteria ⚠