PTGES — 22 ClinVar variants
All ClinVar germline PTGES variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
3 Benign · 3 Likely benign · 16 Uncertain significance
Full PTGES gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTGES p.Ala149Thr Uncertain significance Single submitter
- PTGES p.Arg67Cys Uncertain significance Single submitter
- PTGES p.Glu147Asp Uncertain significance Single submitter
- PTGES p.Gly93Ser Uncertain significance Single submitter
- PTGES p.His102Tyr Uncertain significance Single submitter
- PTGES p.Ile33Val Uncertain significance Single submitter
- PTGES p.Ser61Gly Uncertain significance Single submitter
- PTGES p.Thr129Ile Uncertain significance Single submitter
- PTGES p.Thr129Ser Uncertain significance Single submitter
- PTGES p.Thr21Met Uncertain significance Single submitter
- PTGES p.Thr34Met Uncertain significance Single submitter
- PTGES p.Val105Ile Uncertain significance Single submitter
- PTGES p.Val128Met Uncertain significance Single submitter
- PTGES p.Val29Ala Uncertain significance Single submitter
- PTGES p.Val88Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PTGES variants
Likely benign 3
- p.Arg70= Single submitter
- p.Leu107Phe Single submitter
- p.Ser5Asn Single submitter
Uncertain significance 16
- p.Ala149Thr Single submitter ⚠
- p.Arg67Cys Single submitter ⚠
- p.Glu147Asp Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His102Tyr Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Pro14Leu Single submitter ⚠
- p.Ser61Gly Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Thr129Ser Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr34Met Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val128Met Single submitter ⚠
- p.Val29Ala Single submitter ⚠
- p.Val88Ile Single submitter ⚠