Sugi Variant

Sugi Variant/SREBF1

SREBF1 — 220 ClinVar variants

All ClinVar germline SREBF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 6 Conflicting · 11 Benign · 37 Likely benign · 160 Uncertain significance

Full SREBF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 2

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 134

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

Predictors split 19

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

All SREBF1 variants

Pathogenic 3

  • p.Arg527Cys Multiple submitters hereditary mucoepithelial dysplasia
  • p.Asn528del No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome
  • p.Leu530Pro No assertion criteria IFAP syndrome 1, with or without BRESHECK syndrome ⚠

Likely pathogenic 3

  • c.91+1G>C Single submitter hereditary mucoepithelial dysplasia
  • p.Arg527His Single submitter hereditary mucoepithelial dysplasia ⚠
  • p.Thr136fs Single submitter hereditary mucoepithelial dysplasia

Conflicting classifications of pathogenicity 6

Benign 11

Likely benign 37

Uncertain significance 160