Sugi Variant

Sugi Variant/DAGLA

DAGLA — 161 ClinVar variants

All ClinVar germline DAGLA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 10 Benign · 31 Likely benign · 111 Uncertain significance

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

⚑ Evidence disagreements 105

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 lean, ClinVar uncertain 65

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

Predictors split 40

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

All DAGLA variants

Pathogenic 5

  • p.Arg801fs Single submitter benign paroxysmal tonic upgaze of childhood with ataxia
  • p.Glu829fs Single submitter benign paroxysmal tonic upgaze of childhood with ataxia
  • p.Glu814Ter No assertion criteria benign paroxysmal tonic upgaze of childhood with ataxia
  • p.Glu829Ter No assertion criteria benign paroxysmal tonic upgaze of childhood with ataxia
  • p.Tyr790Ter No assertion criteria benign paroxysmal tonic upgaze of childhood with ataxia

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

Benign 10

Likely benign 31

Uncertain significance 111