Sugi Variant

Sugi Variant/SBF1

SBF1 — 2094 ClinVar variants

All ClinVar germline SBF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 783 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 87 Conflicting · 83 Benign · 57 Benign/Likely benign · 994 Likely benign · 830 Uncertain significance

Full SBF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 783

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 43

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

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 534

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 534

Predictors split 197

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 197

All SBF1 variants

Pathogenic 19

Pathogenic/Likely pathogenic 3

  • c.3826+1G>A Multiple submitters SBF1-related disorder
  • p.Asp719fs Multiple submitters Charcot-Marie-Tooth disease type 4
  • p.Met417Val Multiple submitters Charcot-Marie-Tooth disease type 4B3 ⚠

Likely pathogenic 21

Conflicting classifications of pathogenicity 87

Benign 83

Benign/Likely benign 57

Likely benign 994

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 830

Showing the top 300 by review status; the full set is in the sitemap.