CATSPERT — 8 ClinVar variants
All ClinVar germline CATSPERT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
1 Conflicting · 1 Benign · 4 Likely benign · 2 Uncertain significance
Full CATSPERT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All CATSPERT variants
Conflicting classifications of pathogenicity 1
- p.Asn1043Lys Single submitter
Benign 1
- p.Gln1326His Single submitter
Likely benign 4
- p.Ala456Ser Single submitter
- p.Ile1208= Single submitter
- p.Lys157Asn Single submitter
- p.Pro439= Single submitter
Uncertain significance 2
- p.Ile341Val Single submitter ⚠
- p.Leu1752Ser No assertion criteria prostate cancer ⚠