PLAU — 12 ClinVar variants
All ClinVar germline PLAU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
1 Conflicting · 3 Benign · 2 Benign/Likely benign · 3 Likely benign · 3 Uncertain significance
Full PLAU 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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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PLAU p.Arg79Gln
Conflicting
Single submitter
Quebec platelet disorder
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.
Predictors split 1
The independent predictors disagree with each other — read with care.
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PLAU p.Gly37=
Benign/Likely benign
Multiple submitters
Quebec platelet disorder
All PLAU variants
Conflicting classifications of pathogenicity 1
- p.Arg79Gln Single submitter Quebec platelet disorder ⚠
Benign 3
- c.369-87G>A Multiple submitters
- c.-25C>T Multiple submitters Quebec platelet disorder
- p.Lys231Gln Multiple submitters Quebec platelet disorder
Benign/Likely benign 2
Likely benign 3
- c.58-124A>T Single submitter
- p.Thr248= Single submitter
- p.Thr86= Single submitter
Uncertain significance 3
- c.*20G>A Single submitter
- c.*935A>G Single submitter Quebec platelet disorder
- p.Gly374Val Single submitter ⚠