Sugi Variant

Sugi Variant/BRF1

BRF1 — 236 ClinVar variants

All ClinVar germline BRF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 5 Conflicting · 7 Benign · 4 Benign/Likely benign · 79 Likely benign · 128 Uncertain significance

Full BRF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 4

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 55

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

All BRF1 variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

  • p.Pro292His Multiple submitters cerebellar-facial-dental syndrome
  • p.Ser226Leu Multiple submitters cerebellar-facial-dental syndrome

Likely pathogenic 7

Conflicting classifications of pathogenicity 5

Benign 7

Benign/Likely benign 4

Likely benign 79

Uncertain significance 128