Sugi Variant

Sugi Variant/PDE3A

PDE3A — 326 ClinVar variants

All ClinVar germline PDE3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

7 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 67 Benign · 2 Benign/Likely benign · 52 Likely benign · 191 Uncertain significance

Full PDE3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 3

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 129

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

Predictors split 57

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

All PDE3A variants

Pathogenic 7

  • p.Ala447Thr Single submitter Inborn genetic diseases ⚠
  • p.Gly449Asp Single submitter brachydactyly-arterial hypertension syndrome ⚠
  • p.Gly449Val Single submitter brachydactyly-arterial hypertension syndrome ⚠
  • p.Ala447Val No assertion criteria brachydactyly-arterial hypertension syndrome ⚠
  • p.Thr445Ala No assertion criteria brachydactyly-arterial hypertension syndrome ⚠
  • p.Thr445Asn No assertion criteria brachydactyly-arterial hypertension syndrome
  • p.Thr445Ser No assertion criteria brachydactyly-arterial hypertension syndrome ⚠

Likely pathogenic 3

  • p.Gly449Cys Single submitter brachydactyly-arterial hypertension syndrome
  • p.Thr851Ala Single submitter
  • p.Thr445del No assertion criteria brachydactyly-arterial hypertension syndrome

Conflicting classifications of pathogenicity 4

Benign 67

Benign/Likely benign 2

Likely benign 52

Uncertain significance 191