Sugi Variant

Sugi Variant/DPP6

DPP6 — 287 ClinVar variants

All ClinVar germline DPP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 6 Conflicting · 141 Benign · 1 Benign/Likely benign · 65 Likely benign · 71 Uncertain significance

Full DPP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 54

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 3

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 24

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

All DPP6 variants

Pathogenic 1

  • p.Met385Leu No assertion criteria intellectual disability, autosomal dominant 33 ⚠

Likely pathogenic 2

  • p.Arg775Ter Single submitter intellectual disability, autosomal dominant 33
  • p.Tyr205Ter Single submitter intellectual disability, autosomal dominant 33

Conflicting classifications of pathogenicity 6

Benign 141

Benign/Likely benign 1

Likely benign 65

Uncertain significance 71