Sugi Variant

Sugi Variant/STT3A

STT3A — 272 ClinVar variants

All ClinVar germline STT3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 56 Benign · 6 Benign/Likely benign · 80 Likely benign · 123 Uncertain significance

Full STT3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 84

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

Predictors split 18

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

All STT3A variants

Pathogenic/Likely pathogenic 3

  • p.Arg405Cys Multiple submitters congenital disorder of glycosylation, type Iw, autosomal dominant
  • p.Arg405His Multiple submitters congenital disorder of glycosylation, type Iw, autosomal dominant
  • p.His46Arg Multiple submitters congenital disorder of glycosylation, type Iw, autosomal dominant

Likely pathogenic 4

  • p.Arg160Gln Single submitter congenital disorder of glycosylation, type Iw, autosomal dominant
  • p.Arg405Ser Single submitter congenital disorder of glycosylation, type Iw, autosomal dominant
  • p.Ile84Thr Single submitter congenital disorder of glycosylation, type Iw, autosomal dominant ⚠
  • p.Val626Ala Single submitter STT3A-congenital disorder of glycosylation

Benign 56

Benign/Likely benign 6

Likely benign 80

Uncertain significance 123