Sugi Variant

Sugi Variant/PDE1C

PDE1C — 166 ClinVar variants

All ClinVar germline PDE1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 56 Benign · 2 Benign/Likely benign · 21 Likely benign · 83 Uncertain significance

Full PDE1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 lean, ClinVar uncertain 47

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

Predictors split 27

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

All PDE1C variants

Pathogenic/Likely pathogenic 1

  • p.Ala260Ser No assertion criteria autosomal dominant nonsyndromic hearing loss ⚠

Likely pathogenic 3

  • c.86-1G>A Single submitter hearing loss, autosomal dominant 74
  • p.Gln634Ter Single submitter hearing loss, autosomal dominant 74
  • p.Tyr687Ter Single submitter hearing loss, autosomal dominant 74

Benign 56

Benign/Likely benign 2

Likely benign 21

Uncertain significance 83