PTGES3 — 7 ClinVar variants
All ClinVar germline PTGES3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Benign · 6 Uncertain significance
Full PTGES3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
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.
All PTGES3 variants
Benign 1
- c.2+1116_2+1117del Single submitter
Uncertain significance 6
- p.Asp135Glu Single submitter ⚠
- p.Asp146Tyr Single submitter
- p.Gly42Arg Single submitter ⚠
- p.Met117Leu Single submitter ⚠
- p.Met117Thr Single submitter ⚠
- p.Phe120Val Single submitter ⚠