PAPSS1 — 70 ClinVar variants
All ClinVar germline PAPSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
70 Uncertain significance
Full PAPSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAPSS1 p.Ala114Ser Uncertain significance Single submitter
- PAPSS1 p.Ala543Ser Uncertain significance Single submitter
- PAPSS1 p.Arg24Lys Uncertain significance Single submitter
- PAPSS1 p.Arg285Lys Uncertain significance Single submitter
- PAPSS1 p.Arg333His Uncertain significance Single submitter
- PAPSS1 p.Arg334Cys Uncertain significance Single submitter
- PAPSS1 p.Arg334Pro Uncertain significance Single submitter
- PAPSS1 p.Arg397Cys Uncertain significance Single submitter
- PAPSS1 p.Arg445Gln Uncertain significance Single submitter
- PAPSS1 p.Arg468Cys Uncertain significance Single submitter
- PAPSS1 p.Arg571Cys Uncertain significance Single submitter
- PAPSS1 p.Arg571Gly Uncertain significance Single submitter
- PAPSS1 p.Arg571His Uncertain significance Single submitter
- PAPSS1 p.Arg596Gln Uncertain significance Single submitter
- PAPSS1 p.Asn340Ser Uncertain significance Single submitter
- PAPSS1 p.Asn422His Uncertain significance Single submitter
- PAPSS1 p.Asp461Gly Uncertain significance Single submitter
- PAPSS1 p.Cys323Ser Uncertain significance Single submitter
- PAPSS1 p.Gln23Glu Uncertain significance Single submitter
- PAPSS1 p.Gln289His Uncertain significance Single submitter
- PAPSS1 p.Gln395Glu Uncertain significance Single submitter
- PAPSS1 p.Gln471His Uncertain significance Single submitter
- PAPSS1 p.Glu104Lys Uncertain significance Single submitter
- PAPSS1 p.Glu315Gln Uncertain significance Single submitter
- PAPSS1 p.Glu622Lys Uncertain significance Single submitter
- PAPSS1 p.Gly322Ser Uncertain significance Single submitter
- PAPSS1 p.Gly392Ser Uncertain significance Single submitter
- PAPSS1 p.His314Arg Uncertain significance Single submitter
- PAPSS1 p.His472Arg Uncertain significance Single submitter
- PAPSS1 p.Ile308Val Uncertain significance Single submitter
- PAPSS1 p.Leu376Gln Uncertain significance Single submitter
- PAPSS1 p.Leu384Trp Uncertain significance Single submitter
- PAPSS1 p.Leu403Arg Uncertain significance Single submitter
- PAPSS1 p.Lys175Arg Uncertain significance Single submitter
- PAPSS1 p.Lys235Arg Uncertain significance Single submitter
- PAPSS1 p.Lys459Thr Uncertain significance Single submitter
- PAPSS1 p.Lys570Gln Uncertain significance Single submitter
- PAPSS1 p.Lys619Gln Uncertain significance Single submitter
- PAPSS1 p.Met22Ile Uncertain significance Single submitter
- PAPSS1 p.Met329Ile Uncertain significance Single submitter
- PAPSS1 p.Met410Val Uncertain significance Single submitter
- PAPSS1 p.Phe583Leu Uncertain significance Single submitter
- PAPSS1 p.Pro134Leu Uncertain significance Single submitter
- PAPSS1 p.Pro464Ser Uncertain significance Single submitter
- PAPSS1 p.Pro530Thr Uncertain significance Single submitter
- PAPSS1 p.Pro601Thr Uncertain significance Single submitter
- PAPSS1 p.Ser14Asn Uncertain significance Single submitter
- PAPSS1 p.Trp457Arg Uncertain significance Single submitter
- PAPSS1 p.Tyr238Cys Uncertain significance Single submitter
- PAPSS1 p.Tyr518Cys Uncertain significance Single submitter
- PAPSS1 p.Tyr518His Uncertain significance Single submitter
- PAPSS1 p.Val217Met Uncertain significance Single submitter
- PAPSS1 p.Val558Ile Uncertain significance Single submitter
- PAPSS1 p.Val77Ile Uncertain significance Single submitter
-
PAPSS1 p.Asn96Asp
Uncertain significance
No assertion criteria
PAPSS1-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- PAPSS1 p.Arg351His Uncertain significance Single submitter
- PAPSS1 p.Arg445Trp Uncertain significance Single submitter
- PAPSS1 p.Asn482Thr Uncertain significance Single submitter
- PAPSS1 p.Asp576Gly Uncertain significance Single submitter
- PAPSS1 p.Glu502Lys Uncertain significance Single submitter
- PAPSS1 p.Lys544Glu Uncertain significance Single submitter
- PAPSS1 p.Phe344Ser Uncertain significance Single submitter
- PAPSS1 p.Pro483Leu Uncertain significance Single submitter
- PAPSS1 p.Pro608Leu Uncertain significance Single submitter
- PAPSS1 p.Thr313Ala Uncertain significance Single submitter
- PAPSS1 p.Thr358Met Uncertain significance Single submitter
- PAPSS1 p.Val520Ile Uncertain significance Single submitter
All PAPSS1 variants
Uncertain significance 70
- p.Ala114Ser Single submitter ⚠
- p.Ala543Ser Single submitter ⚠
- p.Arg24Lys Single submitter ⚠
- p.Arg285Lys Single submitter ⚠
- p.Arg333His Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg334Pro Single submitter ⚠
- p.Arg339Cys Single submitter
- p.Arg351His Single submitter ⚠
- p.Arg397Cys Single submitter ⚠
- p.Arg445Gln Single submitter ⚠
- p.Arg445Trp Single submitter ⚠
- p.Arg468Cys Single submitter ⚠
- p.Arg571Cys Single submitter ⚠
- p.Arg571Gly Single submitter ⚠
- p.Arg571His Single submitter ⚠
- p.Arg596Gln Single submitter ⚠
- p.Asn340Ser Single submitter ⚠
- p.Asn422His Single submitter ⚠
- p.Asn482Thr Single submitter ⚠
- p.Asp461Gly Single submitter ⚠
- p.Asp576Gly Single submitter ⚠
- p.Cys323Ser Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Gln289His Single submitter ⚠
- p.Gln395Glu Single submitter ⚠
- p.Gln471His Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu315Gln Single submitter ⚠
- p.Glu502Lys Single submitter ⚠
- p.Glu622Lys Single submitter ⚠
- p.Gly322Ser Single submitter ⚠
- p.Gly392Ser Single submitter ⚠
- p.Gly443Ser Single submitter
- p.His314Arg Single submitter ⚠
- p.His472Arg Single submitter ⚠
- p.Ile308Val Single submitter ⚠
- p.Leu376Gln Single submitter ⚠
- p.Leu384Trp Single submitter ⚠
- p.Leu403Arg Single submitter ⚠
- p.Lys175Arg Single submitter ⚠
- p.Lys235Arg Single submitter ⚠
- p.Lys459Thr Single submitter ⚠
- p.Lys544Glu Single submitter ⚠
- p.Lys570Gln Single submitter ⚠
- p.Lys619Gln Single submitter ⚠
- p.Met22Ile Single submitter ⚠
- p.Met329Ile Single submitter ⚠
- p.Met410Val Single submitter ⚠
- p.Phe344Ser Single submitter ⚠
- p.Phe583Leu Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Pro464Ser Single submitter ⚠
- p.Pro483Leu Single submitter ⚠
- p.Pro530Thr Single submitter ⚠
- p.Pro601Thr Single submitter ⚠
- p.Pro608Leu Single submitter ⚠
- p.Ser14Asn Single submitter ⚠
- p.Thr313Ala Single submitter ⚠
- p.Thr358Met Single submitter ⚠
- p.Trp457Arg Single submitter ⚠
- p.Tyr238Cys Single submitter ⚠
- p.Tyr518Cys Single submitter ⚠
- p.Tyr518His Single submitter ⚠
- p.Val217Met Single submitter ⚠
- p.Val520Ile Single submitter ⚠
- p.Val558Ile Single submitter ⚠
- p.Val77Ile Single submitter ⚠
- p.Arg111Ter No assertion criteria PAPSS1-related disorder
- p.Asn96Asp No assertion criteria PAPSS1-related disorder ⚠