Sugi Variant

Sugi Variant/PEPD

PEPD — 785 ClinVar variants

All ClinVar germline PEPD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →

37 Pathogenic · 14 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 35 Conflicting · 43 Benign · 16 Benign/Likely benign · 366 Likely benign · 245 Uncertain significance

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

⚑ Evidence disagreements 229

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 agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 165

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 165

Predictors split 55

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

All PEPD variants

Pathogenic 37

Pathogenic/Likely pathogenic 14

  • c.442-1G>C Multiple submitters prolidase deficiency
  • c.504-1G>A Multiple submitters prolidase deficiency
  • p.Ala212Pro Multiple submitters prolidase deficiency
  • p.Asp276Asn Multiple submitters PEPD-related disorder
  • p.Gly278Asp Multiple submitters prolidase deficiency
  • p.Gly448Arg Multiple submitters PEPD-related disorder
  • p.Leu368Arg Multiple submitters prolidase deficiency
  • p.Lys140Ter Multiple submitters PEPD-related disorder
  • p.Met1Arg Multiple submitters PEPD-related disorder
  • p.Met1Thr Multiple submitters prolidase deficiency
  • p.Met1Val Multiple submitters PEPD-related disorder
  • p.Phe275fs Multiple submitters megaconial type congenital muscular dystrophy
  • p.Phe434fs Multiple submitters PEPD-related disorder
  • p.Tyr231del Multiple submitters PEPD-related disorder

Likely pathogenic 29

Conflicting classifications of pathogenicity 35

Benign 43

Benign/Likely benign 16

Likely benign 366

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 245