PTMS — 6 ClinVar variants
All ClinVar germline PTMS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 5 Uncertain significance
Full PTMS 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 PTMS variants
Likely benign 1
- p.Pro77= Single submitter
Uncertain significance 5
- p.Arg33Gln Single submitter ⚠
- p.Asp60Tyr Single submitter ⚠
- p.Glu54Asp Single submitter ⚠
- p.Pro77Ala Single submitter ⚠
- p.Val38Met Single submitter ⚠