Sugi Variant

Sugi Variant/DHPS

DHPS — 72 ClinVar variants

All ClinVar germline DHPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 4 Benign · 11 Likely benign · 50 Uncertain significance

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

⚑ Evidence disagreements 50

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 27

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

Predictors split 22

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

All DHPS variants

Pathogenic/Likely pathogenic 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 2

  • c.1014+1G>A Single submitter neurodevelopmental disorder with seizures and speech and walking impairment
  • p.Arg154fs Single submitter neurodevelopmental disorder with seizures and speech and walking impairment

Benign 4

  • c.207+462G>A No assertion criteria DHPS-related disorder
  • p.Ala68= No assertion criteria DHPS-related disorder
  • p.Ser204= No assertion criteria DHPS-related disorder
  • p.Ser219= No assertion criteria DHPS-related disorder

Likely benign 11

Uncertain significance 50