PTGIS — 103 ClinVar variants
All ClinVar germline PTGIS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 6 Benign · 4 Likely benign · 90 Uncertain significance
Full PTGIS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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PTGIS p.Arg275Gln
Likely pathogenic
Single submitter
childhood-onset schizophrenia
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTGIS p.Ala11Gly Uncertain significance Single submitter
- PTGIS p.Ala152Val Uncertain significance Single submitter
- PTGIS p.Ala175Val Uncertain significance Single submitter
- PTGIS p.Ala194Val Uncertain significance Single submitter
- PTGIS p.Ala274Thr Uncertain significance Single submitter
- PTGIS p.Ala320Thr Uncertain significance Single submitter
- PTGIS p.Ala43Asp Uncertain significance Single submitter
- PTGIS p.Ala469Thr Uncertain significance Single submitter
- PTGIS p.Ala4Thr Uncertain significance Single submitter
- PTGIS p.Ala85Val Uncertain significance Single submitter
- PTGIS p.Arg188His Uncertain significance Single submitter
- PTGIS p.Arg208Cys Uncertain significance Single submitter
- PTGIS p.Arg208His Uncertain significance Single submitter
- PTGIS p.Arg212Gln Uncertain significance Single submitter
- PTGIS p.Arg236Leu Uncertain significance Single submitter
- PTGIS p.Arg245Ser Uncertain significance Single submitter
- PTGIS p.Arg275Trp Uncertain significance Single submitter
- PTGIS p.Arg310Cys Uncertain significance Single submitter
- PTGIS p.Arg359His Uncertain significance Single submitter
- PTGIS p.Arg379Pro Uncertain significance Single submitter
- PTGIS p.Arg382His Uncertain significance Single submitter
- PTGIS p.Arg495His Uncertain significance Single submitter
- PTGIS p.Arg72Lys Uncertain significance Single submitter
- PTGIS p.Asp151Glu Uncertain significance Single submitter
- PTGIS p.Asp151Gly Uncertain significance Single submitter
- PTGIS p.Asp470Glu Uncertain significance Single submitter
-
PTGIS p.Asp95Asn
Uncertain significance
Single submitter
essential hypertension
- PTGIS p.Gln193His Uncertain significance Single submitter
- PTGIS p.Glu105Lys Uncertain significance Single submitter
- PTGIS p.Gly311Glu Uncertain significance Single submitter
- PTGIS p.Gly62Asp Uncertain significance Single submitter
- PTGIS p.Gly8Ser Uncertain significance Single submitter
- PTGIS p.His145Asp Uncertain significance Single submitter
- PTGIS p.His145Pro Uncertain significance Single submitter
- PTGIS p.His229Asp Uncertain significance Single submitter
- PTGIS p.Leu210Ile Uncertain significance Single submitter
- PTGIS p.Leu240Gln Uncertain significance Single submitter
- PTGIS p.Leu313Val Uncertain significance Single submitter
- PTGIS p.Leu330Val Uncertain significance Single submitter
- PTGIS p.Leu377Arg Uncertain significance Single submitter
- PTGIS p.Leu389Val Uncertain significance Single submitter
- PTGIS p.Leu462Trp Uncertain significance Single submitter
- PTGIS p.Leu78Pro Uncertain significance Single submitter
- PTGIS p.Lys216Gln Uncertain significance Single submitter
- PTGIS p.Lys234Arg Uncertain significance Single submitter
- PTGIS p.Met266Thr Uncertain significance Single submitter
- PTGIS p.Met288Val Uncertain significance Single submitter
- PTGIS p.Phe456Ser Uncertain significance Single submitter
- PTGIS p.Pro187Leu Uncertain significance Single submitter
- PTGIS p.Pro31Ser Uncertain significance Single submitter
- PTGIS p.Pro331Ala Uncertain significance Single submitter
- PTGIS p.Pro368Leu Uncertain significance Single submitter
- PTGIS p.Pro90Thr Uncertain significance Single submitter
- PTGIS p.Ser258Cys Uncertain significance Single submitter
- PTGIS p.Thr127Ile Uncertain significance Single submitter
- PTGIS p.Thr206Ala Uncertain significance Single submitter
- PTGIS p.Thr55Lys Uncertain significance Single submitter
- PTGIS p.Tyr141Cys Uncertain significance Single submitter
- PTGIS p.Val147Leu Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
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PTGIS p.Ser242Phe
Uncertain significance
Multiple submitters
essential hypertension, genetic
- PTGIS p.Arg373Gln Uncertain significance Single submitter
- PTGIS p.Arg497Cys Uncertain significance Single submitter
- PTGIS p.Arg499Cys Uncertain significance Single submitter
- PTGIS p.Asn468Ile Uncertain significance Single submitter
- PTGIS p.Asp151Asn Uncertain significance Single submitter
- PTGIS p.Asp226His Uncertain significance Single submitter
- PTGIS p.Asp491Glu Uncertain significance Single submitter
- PTGIS p.Gly176Asp Uncertain significance Single submitter
- PTGIS p.Gly372Arg Uncertain significance Single submitter
- PTGIS p.Gly484Ser Uncertain significance Single submitter
- PTGIS p.His160Tyr Uncertain significance Single submitter
- PTGIS p.Met57Ile Uncertain significance Single submitter
- PTGIS p.Phe456Leu Uncertain significance Single submitter
- PTGIS p.Phe483Val Uncertain significance Single submitter
- PTGIS p.Pro355Leu Uncertain significance Single submitter
- PTGIS p.Thr189Pro Uncertain significance Single submitter
- PTGIS p.Thr358Asn Uncertain significance Single submitter
- PTGIS p.Trp255Cys Uncertain significance Single submitter
- PTGIS p.Tyr115Cys Uncertain significance Single submitter
- PTGIS p.Val344Leu Uncertain significance Single submitter
- PTGIS p.Val344Met Uncertain significance Single submitter
- PTGIS p.Val86Ala Uncertain significance Single submitter
-
PTGIS p.Arg252Trp
Likely benign
No assertion criteria
PTGIS-related disorder
All PTGIS variants
Pathogenic 1
- c.1358+2T>C No assertion criteria essential hypertension
Likely pathogenic 1
- p.Arg275Gln Single submitter childhood-onset schizophrenia ⚠
Conflicting classifications of pathogenicity 1
- p.Val460Met Single submitter ⚠
Benign 6
- p.Arg236Cys Multiple submitters
- p.Leu241= Multiple submitters
- c.-19_-2dup18 Single submitter
- p.Arg197= No assertion criteria PTGIS-related disorder
- p.Arg373= No assertion criteria PTGIS-related disorder
- p.Leu256= No assertion criteria PTGIS-related disorder
Likely benign 4
- p.Asn376Ser Single submitter
- p.Leu18= Single submitter
- p.Val76Ile Single submitter
- p.Arg252Trp No assertion criteria PTGIS-related disorder ⚠
Uncertain significance 90
- p.Ser242Phe Multiple submitters essential hypertension, genetic ⚠
- p.Ala11Gly Single submitter ⚠
- p.Ala152Val Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala305Val Single submitter
- p.Ala320Thr Single submitter ⚠
- p.Ala43Asp Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg188His Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg22Cys Single submitter
- p.Arg236Leu Single submitter ⚠
- p.Arg245Ser Single submitter ⚠
- p.Arg275Trp Single submitter ⚠
- p.Arg310Cys Single submitter ⚠
- p.Arg359His Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg379Pro Single submitter ⚠
- p.Arg382Cys Single submitter
- p.Arg382His Single submitter ⚠
- p.Arg495His Single submitter ⚠
- p.Arg497Cys Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg72Lys Single submitter ⚠
- p.Asn287Ser Single submitter
- p.Asn468Ile Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp151Glu Single submitter ⚠
- p.Asp151Gly Single submitter ⚠
- p.Asp226His Single submitter ⚠
- p.Asp470Glu Single submitter ⚠
- p.Asp491Glu Single submitter ⚠
- p.Asp95Asn Single submitter essential hypertension ⚠
- p.Gln193His Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.Gly176Asp Single submitter ⚠
- p.Gly311Glu Single submitter ⚠
- p.Gly372Arg Single submitter ⚠
- p.Gly484Ser Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly62Ser Single submitter
- p.Gly8Ser Single submitter ⚠
- p.His145Asp Single submitter ⚠
- p.His145Pro Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.His229Asp Single submitter ⚠
- p.His461Pro Single submitter
- p.Leu126fs Single submitter
- p.Leu210Ile Single submitter ⚠
- p.Leu240Gln Single submitter ⚠
- p.Leu313Val Single submitter ⚠
- p.Leu330Val Single submitter ⚠
- p.Leu377Arg Single submitter ⚠
- p.Leu389Val Single submitter ⚠
- p.Leu462Trp Single submitter ⚠
- p.Leu78Pro Single submitter ⚠
- p.Lys216Gln Single submitter ⚠
- p.Lys234Arg Single submitter ⚠
- p.Met266Thr Single submitter ⚠
- p.Met288Val Single submitter ⚠
- p.Met57Ile Single submitter ⚠
- p.Phe456Leu Single submitter ⚠
- p.Phe456Ser Single submitter ⚠
- p.Phe483Val Single submitter ⚠
- p.Pro187Leu Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Pro331Ala Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro90Thr Single submitter ⚠
- p.Ser258Cys Single submitter ⚠
- p.Thr127Ile Single submitter ⚠
- p.Thr189Pro Single submitter ⚠
- p.Thr206Ala Single submitter ⚠
- p.Thr358Asn Single submitter ⚠
- p.Thr55Lys Single submitter ⚠
- p.Trp255Cys Single submitter ⚠
- p.Tyr115Cys Single submitter ⚠
- p.Tyr141Cys Single submitter ⚠
- p.Val147Leu Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val344Met Single submitter ⚠
- p.Val86Ala Single submitter ⚠
- p.Val86Met Single submitter