Sugi Variant

Sugi Variant/SOST

SOST — 99 ClinVar variants

All ClinVar germline SOST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 7 Benign · 24 Likely benign · 57 Uncertain significance

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

⚑ Evidence disagreements 40

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 27

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

Predictors split 11

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

All SOST variants

Pathogenic 5

  • p.Gln24Ter Multiple submitters sclerosteosis 1
  • p.Lys30fs Single submitter sclerosteosis 1
  • p.Trp124Ter Single submitter sclerosteosis 1
  • p.Arg126Ter No assertion criteria sclerosteosis 1
  • p.Val21Leu No assertion criteria craniodiaphyseal dysplasia, autosomal dominant ⚠

Likely pathogenic 2

Conflicting classifications of pathogenicity 4

Benign 7

Likely benign 24

Uncertain significance 57