RNASEL — 161 ClinVar variants

All ClinVar germline RNASEL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 7 Benign · 2 Benign/Likely benign · 18 Likely benign · 129 Uncertain significance

Full RNASEL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 60

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

All RNASEL variants

Pathogenic 1

  • p.Met1Ile No assertion criteria prostate cancer, hereditary, 1

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

  • p.Glu265Ter Single submitter prostate cancer, hereditary, 1

Benign 7

Benign/Likely benign 2

Likely benign 18

Uncertain significance 129