UPP1 — 5 ClinVar variants
All ClinVar germline UPP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Benign · 2 Likely benign · 2 Uncertain significance
Full UPP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All UPP1 variants
Benign 1
- p.Thr202= Multiple submitters
Likely benign 2
- p.Glu229fs Single submitter
- p.Arg94Cys No assertion criteria long QT syndrome
Uncertain significance 2
- p.Tyr214Phe Multiple submitters
- p.Ile139Phe Single submitter ⚠