PTGS1 — 82 ClinVar variants
All ClinVar germline PTGS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
9 Benign · 7 Likely benign · 66 Uncertain significance
Full PTGS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 40
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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PTGS1 p.Gln240Pro
Uncertain significance
Multiple submitters
Hemorrhage
- PTGS1 p.Arg244Gln Uncertain significance Single submitter
- PTGS1 p.Arg244Trp Uncertain significance Single submitter
- PTGS1 p.Arg373His Uncertain significance Single submitter
- PTGS1 p.Arg432Gln Uncertain significance Single submitter
- PTGS1 p.Arg466Ser Uncertain significance Single submitter
- PTGS1 p.Arg53His Uncertain significance Single submitter
- PTGS1 p.Arg580Cys Uncertain significance Single submitter
- PTGS1 p.Arg580Ser Uncertain significance Single submitter
- PTGS1 p.Arg594Gln Uncertain significance Single submitter
- PTGS1 p.Arg60His Uncertain significance Single submitter
- PTGS1 p.Arg78Gln Uncertain significance Single submitter
- PTGS1 p.Arg82Gln Uncertain significance Single submitter
- PTGS1 p.Asn130Ser Uncertain significance Single submitter
- PTGS1 p.Asn194Ser Uncertain significance Single submitter
- PTGS1 p.Asn236Ser Uncertain significance Single submitter
- PTGS1 p.Gln191Arg Uncertain significance Single submitter
- PTGS1 p.Glu509Gln Uncertain significance Single submitter
- PTGS1 p.Glu593Lys Uncertain significance Single submitter
- PTGS1 p.Gly230Ser Uncertain significance Single submitter
- PTGS1 p.Gly535Arg Uncertain significance Single submitter
- PTGS1 p.His133Leu Uncertain significance Single submitter
- PTGS1 p.His441Arg Uncertain significance Single submitter
- PTGS1 p.His442Gln Uncertain significance Single submitter
- PTGS1 p.Leu229Phe Uncertain significance Single submitter
- PTGS1 p.Leu507Pro Uncertain significance Single submitter
- PTGS1 p.Lys572Asn Uncertain significance Single submitter
- PTGS1 p.Met390Thr Uncertain significance Single submitter
- PTGS1 p.Phe199Leu Uncertain significance Single submitter
- PTGS1 p.Pro190Thr Uncertain significance Single submitter
- PTGS1 p.Pro217His Uncertain significance Single submitter
- PTGS1 p.Ser585Gly Uncertain significance Single submitter
- PTGS1 p.Thr148Ser Uncertain significance Single submitter
- PTGS1 p.Thr597Ala Uncertain significance Single submitter
-
PTGS1 p.Trp138Arg
Uncertain significance
Single submitter
Hemorrhage
- PTGS1 p.Tyr38Phe Uncertain significance Single submitter
- PTGS1 p.Val154Met Uncertain significance Single submitter
- PTGS1 p.Val414Ala Uncertain significance Single submitter
- PTGS1 p.Val567Ile Uncertain significance Single submitter
- PTGS1 p.Val577Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- PTGS1 p.Arg178Cys Uncertain significance Single submitter
- PTGS1 p.Arg239His Uncertain significance Single submitter
- PTGS1 p.Arg432Trp Uncertain significance Single submitter
- PTGS1 p.Arg458Trp Uncertain significance Single submitter
- PTGS1 p.Arg466Cys Uncertain significance Single submitter
- PTGS1 p.Asp248Tyr Uncertain significance Single submitter
- PTGS1 p.Asp257Tyr Uncertain significance Single submitter
- PTGS1 p.Asp423Gly Uncertain significance Single submitter
- PTGS1 p.Asp498Gly Uncertain significance Single submitter
- PTGS1 p.Glu400Gln Uncertain significance Single submitter
- PTGS1 p.Glu552Lys Uncertain significance Single submitter
- PTGS1 p.Gly397Arg Uncertain significance Single submitter
- PTGS1 p.Gly436Ser Uncertain significance Single submitter
-
PTGS1 p.Ile524Thr
Uncertain significance
Single submitter
Hemorrhage
- PTGS1 p.Leu237Met Benign Single submitter
- PTGS1 p.Met162Val Uncertain significance Single submitter
- PTGS1 p.Pro262Leu Uncertain significance Single submitter
- PTGS1 p.Pro582Leu Uncertain significance Single submitter
- PTGS1 p.Pro71Ser Uncertain significance Single submitter
- PTGS1 p.Ser120Cys Uncertain significance Single submitter
- PTGS1 p.Ser393Tyr Uncertain significance Single submitter
- PTGS1 p.Thr220Asn Uncertain significance Single submitter
- PTGS1 p.Thr61Met Uncertain significance Single submitter
- PTGS1 p.Trp97Cys Uncertain significance Single submitter
- PTGS1 p.Tyr474His Uncertain significance Single submitter
- PTGS1 p.Val21Ile Uncertain significance Single submitter
All PTGS1 variants
Benign 9
- c.762+10G>A Multiple submitters
- p.Ala499= Multiple submitters
- p.Cys68= Multiple submitters
- p.Gln41= Multiple submitters
- p.Gly213= Single submitter
- p.Leu237Met Single submitter ⚠
- p.Lys185Thr Single submitter
- p.Pro504= Single submitter
- p.Trp8Arg Single submitter
Likely benign 7
- p.Leu15_Leu16del Multiple submitters
- p.Val481Ile Multiple submitters
- p.Arg580His Single submitter
- p.Arg78Trp Single submitter
- p.Phe366= Single submitter
- p.Pro262= Single submitter
- p.Val448Met No assertion criteria PTGS1-related disorder
Uncertain significance 66
- p.Gln240Pro Multiple submitters Hemorrhage ⚠
- p.Arg108Ter Single submitter
- p.Arg178Cys Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg373His Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg432Trp Single submitter ⚠
- p.Arg458Trp Single submitter ⚠
- p.Arg466Cys Single submitter ⚠
- p.Arg466Ser Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Arg580Cys Single submitter ⚠
- p.Arg580Ser Single submitter ⚠
- p.Arg594Gln Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn130Ser Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn236Ser Single submitter ⚠
- p.Asp248Tyr Single submitter ⚠
- p.Asp257Tyr Single submitter ⚠
- p.Asp423Gly Single submitter ⚠
- p.Asp498Gly Single submitter ⚠
- p.Gln191Arg Single submitter ⚠
- p.Glu400Gln Single submitter ⚠
- p.Glu509Gln Single submitter ⚠
- p.Glu552Lys Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Gly230Ser Single submitter ⚠
- p.Gly397Arg Single submitter ⚠
- p.Gly436Ser Single submitter ⚠
- p.Gly535Arg Single submitter ⚠
- p.His133Leu Single submitter ⚠
- p.His441Arg Single submitter ⚠
- p.His442Gln Single submitter ⚠
- p.Ile524Thr Single submitter Hemorrhage ⚠
- p.Leu229Phe Single submitter ⚠
- p.Leu507Pro Single submitter ⚠
- p.Lys572Asn Single submitter ⚠
- p.Met162Val Single submitter ⚠
- p.Met390Thr Single submitter ⚠
- p.Phe199Leu Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro217His Single submitter ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro582Leu Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Ser120Cys Single submitter ⚠
- p.Ser393Tyr Single submitter ⚠
- p.Ser585Gly Single submitter ⚠
- p.Thr148Ser Single submitter ⚠
- p.Thr220Asn Single submitter ⚠
- p.Thr597Ala Single submitter ⚠
- p.Thr61Met Single submitter ⚠
- p.Trp138Arg Single submitter Hemorrhage ⚠
- p.Trp97Cys Single submitter ⚠
- p.Tyr38Phe Single submitter ⚠
- p.Tyr474His Single submitter ⚠
- p.Val154Met Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val414Ala Single submitter ⚠
- p.Val567Ile Single submitter ⚠
- p.Val577Ile Single submitter ⚠