PTPA — 18 ClinVar variants
All ClinVar germline PTPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
2 Pathogenic · 4 Benign · 2 Benign/Likely benign · 5 Likely benign · 5 Uncertain significance
Full PTPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
- PTPA p.Tyr109Cys Benign Multiple submitters
-
PTPA p.Met263Arg
Pathogenic
No assertion criteria
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
All PTPA variants
Pathogenic 2
- p.Ala136Asp No assertion criteria Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
- p.Met263Arg No assertion criteria Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development ⚠
Benign 4
- p.Ala204= Multiple submitters
- p.Tyr109Cys Multiple submitters ⚠
- p.Arg173Gln Single submitter
- p.Lys183Thr Single submitter
Likely benign 5
- c.217-998A>G Single submitter
- c.32-7T>G Single submitter
- c.787-9C>G Single submitter
- p.Pro219= Single submitter
- p.Ser322= Single submitter
Uncertain significance 5
- c.217-951C>T Single submitter ⚠
- p.Asp95Glu Single submitter ⚠
- p.Glu72Gln Single submitter ⚠
- p.Leu314Val Single submitter ⚠
- p.Met36Thr Single submitter ⚠