PLA2R1 — 198 ClinVar variants

All ClinVar germline PLA2R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

5 Benign · 21 Likely benign · 172 Uncertain significance

Full PLA2R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 158

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 158

All PLA2R1 variants

Benign 5

  • p.Ala653fs Single submitter kidney disorder
  • p.Gly1106Ser Single submitter atypical hemolytic-uremic syndrome
  • p.His300Asp Single submitter atypical hemolytic-uremic syndrome
  • p.Lys652Asn Single submitter kidney disorder
  • p.Met292Val Single submitter atypical hemolytic-uremic syndrome

Likely benign 21

Uncertain significance 172