PPAT — 27 ClinVar variants
All ClinVar germline PPAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
2 Likely benign · 25 Uncertain significance
Full PPAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPAT p.Ala180Val Uncertain significance Single submitter
- PPAT p.Arg210His Uncertain significance Single submitter
- PPAT p.Arg260Ser Uncertain significance Single submitter
- PPAT p.Asn78Ser Uncertain significance Single submitter
- PPAT p.Gly55Ala Uncertain significance Single submitter
- PPAT p.Ile401Lys Uncertain significance Single submitter
- PPAT p.Leu367Phe Uncertain significance Single submitter
- PPAT p.Lys174Arg Uncertain significance Single submitter
- PPAT p.Lys479Arg Uncertain significance Single submitter
- PPAT p.Lys499Asn Uncertain significance Single submitter
- PPAT p.Pro325Thr Uncertain significance Single submitter
- PPAT p.Ser63Leu Uncertain significance Single submitter
- PPAT p.Thr166Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- PPAT p.Arg210Cys Uncertain significance Single submitter
- PPAT p.Arg248Cys Uncertain significance Single submitter
- PPAT p.Arg305His Uncertain significance Single submitter
- PPAT p.Asn455Ser Uncertain significance Single submitter
- PPAT p.Glu345Lys Uncertain significance Single submitter
- PPAT p.Glu489Asp Uncertain significance Single submitter
- PPAT p.Glu489Gly Uncertain significance Single submitter
- PPAT p.His447Asp Uncertain significance Single submitter
- PPAT p.Ile269Thr Uncertain significance Single submitter
- PPAT p.Pro290Ser Uncertain significance Single submitter
- PPAT p.Pro443Leu Uncertain significance Single submitter
- PPAT p.Pro443Ser Uncertain significance Single submitter
All PPAT variants
Likely benign 2
- p.Met293Ile Single submitter
- p.Arg351Trp No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 25
- p.Ala180Val Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg260Ser Single submitter ⚠
- p.Arg305His Single submitter ⚠
- p.Asn455Ser Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu489Asp Single submitter ⚠
- p.Glu489Gly Single submitter ⚠
- p.Gly55Ala Single submitter ⚠
- p.His447Asp Single submitter ⚠
- p.Ile269Thr Single submitter ⚠
- p.Ile401Lys Single submitter ⚠
- p.Leu367Phe Single submitter ⚠
- p.Lys174Arg Single submitter ⚠
- p.Lys479Arg Single submitter ⚠
- p.Lys499Asn Single submitter ⚠
- p.Pro290Ser Single submitter ⚠
- p.Pro325Thr Single submitter ⚠
- p.Pro443Leu Single submitter ⚠
- p.Pro443Ser Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Thr166Ile Single submitter ⚠