PYCARD — 10 ClinVar variants
All ClinVar germline PYCARD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
1 Benign · 1 Likely benign · 8 Uncertain significance
Full PYCARD 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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
All PYCARD variants
Benign 1
- p.Phe114= Single submitter
Likely benign 1
- p.Leu136= Multiple submitters
Uncertain significance 8
- p.Ala124Pro Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg119Trp Single submitter
- p.Arg160Gln Single submitter ⚠
- p.Asp10Asn Single submitter ⚠
- p.Asp134Glu Single submitter ⚠
- p.His118Tyr Single submitter ⚠
- p.Ser157Asn Single submitter ⚠