PTMA — 12 ClinVar variants
All ClinVar germline PTMA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
12 Uncertain significance
Full PTMA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 4
The independent predictors disagree with each other — read with care.
All PTMA variants
Uncertain significance 12
- p.Ala35Pro Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Arg31Thr Single submitter ⚠
- p.Asn29Asp Single submitter ⚠
- p.Asp100His Single submitter
- p.Asp100Tyr Single submitter
- p.Asp107Asn Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp53Glu Single submitter ⚠
- p.Glu11Asp Single submitter ⚠
- p.Glu19Asp Single submitter ⚠
- p.Glu58Gln Single submitter