Sugi Variant

Sugi Variant/SERPINB8

SERPINB8 — 105 ClinVar variants

All ClinVar germline SERPINB8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 21 Benign · 21 Likely benign · 57 Uncertain significance

Full SERPINB8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 43

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

Predictors split 6

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

All SERPINB8 variants

Pathogenic 1

  • p.Met1Thr Single submitter peeling skin syndrome 5

Likely pathogenic 3

  • c.721-2A>G Single submitter peeling skin syndrome 5
  • p.Asn90fs Single submitter peeling skin syndrome 5
  • p.Glu274Ter Single submitter peeling skin syndrome 5

Conflicting classifications of pathogenicity 2

Benign 21

Likely benign 21

Uncertain significance 57