Sugi Variant

Sugi Variant/DPYS

DPYS — 226 ClinVar variants

All ClinVar germline DPYS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

15 Pathogenic · 8 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 9 Conflicting · 15 Benign · 4 Benign/Likely benign · 41 Likely benign · 126 Uncertain significance

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

⚑ Evidence disagreements 117

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 1

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

Predictors lean, ClinVar uncertain 46

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

Predictors split 70

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

All DPYS variants

Pathogenic 15

Pathogenic/Likely pathogenic 8

Likely pathogenic 8

Conflicting classifications of pathogenicity 9

Benign 15

Benign/Likely benign 4

  • c.793+10G>T Multiple submitters dihydropyrimidinuria
  • p.Arg6Gln Multiple submitters dihydropyrimidinuria ⚠
  • p.Asp354= Multiple submitters dihydropyrimidinuria
  • p.Tyr176= Multiple submitters dihydropyrimidinuria

Likely benign 41

Uncertain significance 126