DEUP1 — 3 ClinVar variants
All ClinVar germline DEUP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
3 Uncertain significance
Full DEUP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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.
All DEUP1 variants
Uncertain significance 3
- p.Asp470His Single submitter ⚠
- p.Gln182Lys Single submitter ⚠
- p.Ser526Leu No assertion criteria polycystic kidney disease ⚠