Sugi Variant

Sugi Variant/SF3B1

SF3B1 — 79 ClinVar variants

All ClinVar germline SF3B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →

1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 12 Benign · 3 Benign/Likely benign · 9 Likely benign · 50 Uncertain significance

Full SF3B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 44

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 14

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

All SF3B1 variants

Pathogenic/Likely pathogenic 1

  • p.Lys666Asn Multiple submitters Myelodysplastic syndrome progressed to acute myeloid leukemia

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

Benign 12

Benign/Likely benign 3

Likely benign 9

Uncertain significance 50