SERPINE1 — 135 ClinVar variants
All ClinVar germline SERPINE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Pathogenic · 1 Conflicting · 21 Benign · 4 Benign/Likely benign · 14 Likely benign · 94 Uncertain significance
Full SERPINE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SERPINE1 p.Asp240Gly
Uncertain significance
Multiple submitters
congenital plasminogen activator inhibitor type 1 deficiency
-
SERPINE1 p.Leu175Pro
Uncertain significance
Multiple submitters
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Pro372Ala Uncertain significance Multiple submitters
- SERPINE1 p.Ala119Thr Uncertain significance Single submitter
- SERPINE1 p.Ala343Val Uncertain significance Single submitter
- SERPINE1 p.Ala83Thr Uncertain significance Single submitter
- SERPINE1 p.Arg124Trp Uncertain significance Single submitter
-
SERPINE1 p.Arg141Trp
Uncertain significance
Single submitter
Thrombus
- SERPINE1 p.Arg185Gln Uncertain significance Single submitter
-
SERPINE1 p.Arg209His
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
-
SERPINE1 p.Arg210Cys
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Arg386Gln Uncertain significance Single submitter
- SERPINE1 p.Arg53Cys Uncertain significance Single submitter
- SERPINE1 p.Arg99Trp Uncertain significance Single submitter
- SERPINE1 p.Asp240Asn Uncertain significance Single submitter
- SERPINE1 p.Asp308Asn Uncertain significance Single submitter
- SERPINE1 p.Glu113Asp Uncertain significance Single submitter
- SERPINE1 p.Gly13Ser Uncertain significance Single submitter
- SERPINE1 p.Gly75Arg Uncertain significance Single submitter
- SERPINE1 p.Gly93Asp Uncertain significance Single submitter
-
SERPINE1 p.His135Tyr
Uncertain significance
Single submitter
Hemorrhage
- SERPINE1 p.His166Leu Uncertain significance Single submitter
- SERPINE1 p.His252Asp Uncertain significance Single submitter
- SERPINE1 p.His387Leu Uncertain significance Single submitter
-
SERPINE1 p.Ile282Ser
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Leu105Phe Uncertain significance Single submitter
- SERPINE1 p.Leu126Met Uncertain significance Single submitter
-
SERPINE1 p.Leu332Pro
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Met133Ile Uncertain significance Single submitter
- SERPINE1 p.Met377Val Uncertain significance Single submitter
- SERPINE1 p.Met85Val Uncertain significance Single submitter
-
SERPINE1 p.Pro312Ser
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
-
SERPINE1 p.Ser331Asn
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
-
SERPINE1 p.Ser50Cys
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Ser50Phe Uncertain significance Single submitter
- SERPINE1 p.Thr116Ile Uncertain significance Single submitter
-
SERPINE1 p.Thr330Met
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Thr356Met Uncertain significance Single submitter
- SERPINE1 p.Thr73Ala Uncertain significance Single submitter
- SERPINE1 p.Tyr102His Uncertain significance Single submitter
- SERPINE1 p.Val122Ile Uncertain significance Single submitter
- SERPINE1 p.Val129Ile Uncertain significance Single submitter
- SERPINE1 p.Val351Gly Uncertain significance Single submitter
-
SERPINE1 p.Pro27Thr
Uncertain significance
No assertion criteria
congenital plasminogen activator inhibitor type 1 deficiency
Predictors split 6
The independent predictors disagree with each other — read with care.
-
SERPINE1 p.Gly196Ser
Uncertain significance
Multiple submitters
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Phe157Leu Uncertain significance Multiple submitters
- SERPINE1 p.Gly217Asp Uncertain significance Single submitter
-
SERPINE1 p.Gly217Ser
Uncertain significance
Single submitter
congenital plasminogen activator inhibitor type 1 deficiency
- SERPINE1 p.Leu394Val Uncertain significance Single submitter
- SERPINE1 p.Thr238Arg Uncertain significance Single submitter
All SERPINE1 variants
Pathogenic 1
- p.Tyr233_Thr234insTer No assertion criteria congenital plasminogen activator inhibitor type 1 deficiency
Conflicting classifications of pathogenicity 1
- p.Val152= Single submitter congenital plasminogen activator inhibitor type 1 deficiency
Benign 21
- c.1088-106A>G Multiple submitters
- c.701-45G>A Multiple submitters
- c.899+93T>C Multiple submitters
- c.*1186C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*1449C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*1737G>A Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*361T>C Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*685C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*690T>C Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*722T>G Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*892G>A Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Arg185= Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Asp216= Multiple submitters
- c.272-243T>C Single submitter
- c.506-286A>C Single submitter
- c.506-301A>G Single submitter
- c.701-241T>C Single submitter
- c.899+12C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.900-233_900-222del Single submitter
- c.*1358T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*752C>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
Benign/Likely benign 4
- c.1088-9C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Ala119= Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Ala15Thr Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Val17Ile Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
Likely benign 14
- c.*180C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*950C>T Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- c.*1521T>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1787T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*440T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*661T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Ala272= Single submitter
- p.His25Pro Single submitter
- p.Leu273= Single submitter
- p.Ser206Gly Single submitter
- p.Thr319= Single submitter
- p.Tyr244= Single submitter
- p.Asn232Ser No assertion criteria SERPINE1-related disorder
- p.Phe38= No assertion criteria SERPINE1-related disorder
Uncertain significance 94
- c.*617T>A Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency
- p.Asp240Gly Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Gly196Ser Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Leu175Pro Multiple submitters congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Phe157Leu Multiple submitters ⚠
- p.Pro372Ala Multiple submitters ⚠
- c.1088-11T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.1172-2A>C Single submitter Gastrointestinal hemorrhage
- c.700+10A>G Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.700+4A>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.-101G>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.-109G>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.-2+5G>A Single submitter
- c.-20G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.-54C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.-93C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1006T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1147G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1155T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1192G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1266G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1295C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1296G>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1388G>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1437C>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1443C>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1545T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1590A>G Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*1668G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*207C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*236C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*275C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*294T>G Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*425T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*455C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*456G>A Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*456G>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*478A>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*533C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*585G>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*684T>C Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*859C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*863C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- c.*891C>T Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Ala119Thr Single submitter ⚠
- p.Ala179= Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Ala343Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg141Trp Single submitter Thrombus ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg209His Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Arg210Cys Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Arg386Gln Single submitter ⚠
- p.Arg53Cys Single submitter ⚠
- p.Arg99Trp Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp308Asn Single submitter ⚠
- p.Glu113Asp Single submitter ⚠
- p.Glu267= Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Gly13Ser Single submitter ⚠
- p.Gly217Asp Single submitter ⚠
- p.Gly217Ser Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Gly75Arg Single submitter ⚠
- p.Gly93Asp Single submitter ⚠
- p.His135Tyr Single submitter Hemorrhage ⚠
- p.His166Leu Single submitter ⚠
- p.His252Asp Single submitter ⚠
- p.His387Leu Single submitter ⚠
- p.Ile282Ser Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu126Met Single submitter ⚠
- p.Leu332Pro Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Leu394Val Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met170Thr Single submitter
- p.Met377Val Single submitter ⚠
- p.Met85Val Single submitter ⚠
- p.Pro312Ser Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Ser331Asn Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Ser50Cys Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Ser50Phe Single submitter ⚠
- p.Ser64Leu Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Thr116Ile Single submitter ⚠
- p.Thr238Arg Single submitter ⚠
- p.Thr330Met Single submitter congenital plasminogen activator inhibitor type 1 deficiency ⚠
- p.Thr356Met Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Tyr102His Single submitter ⚠
- p.Val122Ile Single submitter ⚠
- p.Val129Ile Single submitter ⚠
- p.Val340= Single submitter congenital plasminogen activator inhibitor type 1 deficiency
- p.Val351Gly Single submitter ⚠
- p.Pro27Thr No assertion criteria congenital plasminogen activator inhibitor type 1 deficiency ⚠