TPT1 — 9 ClinVar variants
All ClinVar germline TPT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
2 Benign · 7 Uncertain significance
Full TPT1 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 3
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 TPT1 variants
Benign 2
- p.Lys164= Multiple submitters
- p.Ile122Val Single submitter
Uncertain significance 7
- p.Ala118Val Single submitter ⚠
- p.Ala119Ser Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly41Val Single submitter ⚠
- p.Ser82Thr Single submitter ⚠
- p.Tyr18Cys Single submitter ⚠
- p.Val36Ile Single submitter ⚠