Sugi Variant

Sugi Variant/UBTF

UBTF — 238 ClinVar variants

All ClinVar germline UBTF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 2 Conflicting · 19 Benign · 2 Benign/Likely benign · 79 Likely benign · 129 Uncertain significance

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

⚑ Evidence disagreements 96

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 28

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

All UBTF variants

Pathogenic/Likely pathogenic 1

  • p.Glu210Lys Multiple submitters Rare syndromic intellectual disability ⚠

Likely pathogenic 6

  • c.1047+1G>A Single submitter
  • p.Gln672Ter Single submitter
  • p.Glu476Lys Single submitter childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder ⚠
  • p.Tyr308Ter Single submitter
  • p.Val217fs Single submitter UBTF-related disorder
  • p.Tyr626Ter No assertion criteria childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Conflicting classifications of pathogenicity 2

Benign 19

Benign/Likely benign 2

Likely benign 79

Uncertain significance 129