Sugi Variant

Sugi Variant/SERPINA6

SERPINA6 — 92 ClinVar variants

All ClinVar germline SERPINA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 5 Benign · 13 Likely benign · 70 Uncertain significance

Full SERPINA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 lean, ClinVar uncertain 51

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

Predictors split 12

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

All SERPINA6 variants

Pathogenic 1

  • p.Trp11Ter No assertion criteria corticosteroid-binding globulin deficiency

Likely pathogenic 1

  • p.Val55fs No assertion criteria corticosteroid-binding globulin deficiency

Conflicting classifications of pathogenicity 2

  • p.Asp389Asn Single submitter SERPINA6-related disorder
  • p.Leu115His Single submitter corticosteroid-binding globulin deficiency ⚠

Benign 5

  • p.Thr126= Multiple submitters
  • p.Asp337= No assertion criteria SERPINA6-related disorder
  • p.Leu312= No assertion criteria SERPINA6-related disorder
  • p.Pro268= No assertion criteria SERPINA6-related disorder
  • p.Ser246= No assertion criteria SERPINA6-related disorder

Likely benign 13

Uncertain significance 70