Sugi Variant

Sugi Variant/STN1

STN1 — 301 ClinVar variants

All ClinVar germline STN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 6 Benign · 2 Benign/Likely benign · 128 Likely benign · 155 Uncertain significance

Full STN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 5

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

Predictors lean, ClinVar uncertain 104

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

Predictors split 17

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

All STN1 variants

Pathogenic 1

  • p.Arg135Thr No assertion criteria cerebroretinal microangiopathy with calcifications and cysts 2 ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 8

Benign 6

  • c.877-20C>T Multiple submitters
  • p.Ser248Cys Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 2
  • p.Ser340= Multiple submitters
  • p.Thr151Ala Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 2
  • p.Val232= Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 2
  • c.582-15del Single submitter

Benign/Likely benign 2

  • c.582-4G>A Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 2
  • p.Glu121Lys Multiple submitters

Likely benign 128

Uncertain significance 155