Sugi Variant

Sugi Variant/STS

STS — 194 ClinVar variants

All ClinVar germline STS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

7 Pathogenic · 13 Likely pathogenic · 11 Conflicting · 31 Benign · 8 Benign/Likely benign · 37 Likely benign · 87 Uncertain significance

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

⚑ Evidence disagreements 98

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 7

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

Predictors lean, ClinVar uncertain 64

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

Predictors split 27

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

All STS variants

Pathogenic 7

  • c.806+1G>A Single submitter recessive X-linked ichthyosis
  • p.Gly57Ter Single submitter
  • p.Trp91Ter Single submitter recessive X-linked ichthyosis
  • c.1241+1G>T No assertion criteria recessive X-linked ichthyosis
  • p.Cys441Tyr No assertion criteria recessive X-linked ichthyosis
  • p.His439Arg No assertion criteria recessive X-linked ichthyosis
  • p.Trp367Arg No assertion criteria recessive X-linked ichthyosis

Likely pathogenic 13

Conflicting classifications of pathogenicity 11

Benign 31

Benign/Likely benign 8

Likely benign 37

Uncertain significance 87