Sugi Variant

Sugi Variant/PLA2G4A

PLA2G4A — 194 ClinVar variants

All ClinVar germline PLA2G4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 13 Benign · 6 Benign/Likely benign · 109 Likely benign · 59 Uncertain significance

Full PLA2G4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 39

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

Predictors split 17

The independent predictors disagree with each other — read with care.

All PLA2G4A variants

Pathogenic 4

  • c.2118+4_2118+7del No assertion criteria cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  • p.Arg485His No assertion criteria cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ⚠
  • p.Asp575His No assertion criteria cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  • p.Ser111Pro No assertion criteria cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ⚠

Likely pathogenic 1

  • p.Val203fs Single submitter cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Conflicting classifications of pathogenicity 2

  • p.Arg166fs Single submitter cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  • p.Tyr213His Single submitter ⚠

Benign 13

Benign/Likely benign 6

Likely benign 109

Uncertain significance 59