Sugi Variant

Sugi Variant/PDE2A

PDE2A — 353 ClinVar variants

All ClinVar germline PDE2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

6 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 25 Benign · 4 Benign/Likely benign · 164 Likely benign · 149 Uncertain significance

Full PDE2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 80

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

Predictors split 51

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

All PDE2A variants

Pathogenic 6

  • p.Gln394Ter Single submitter choreatic disease
  • p.Gly198fs Single submitter Inborn genetic diseases
  • c.1922+5G>A No assertion criteria intellectual developmental disorder with paroxysmal dyskinesia or seizures
  • c.323+1G>A No assertion criteria intellectual developmental disorder with paroxysmal dyskinesia or seizures
  • p.Asp480Gly No assertion criteria intellectual developmental disorder with paroxysmal dyskinesia or seizures
  • p.Pro149Leu No assertion criteria intellectual developmental disorder with paroxysmal dyskinesia or seizures

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

Benign 25

Benign/Likely benign 4

Likely benign 164

Uncertain significance 149