Sugi Variant

Sugi Variant/SOX4

SOX4 — 268 ClinVar variants

All ClinVar germline SOX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

8 Pathogenic · 4 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 10 Conflicting · 9 Benign · 2 Benign/Likely benign · 40 Likely benign · 180 Uncertain significance

Full SOX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 97

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

Predictors split 41

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

All SOX4 variants

Pathogenic 8

Pathogenic/Likely pathogenic 4

  • p.Ser347Ter Multiple submitters Coffin-Siris syndrome 10
  • p.Ala112Pro No assertion criteria Mild facial and digital morphological abnormalities
  • p.Ile59Ser No assertion criteria Coffin-Siris syndrome 10
  • p.Lys105Asn No assertion criteria Coffin-Siris syndrome 10

Likely pathogenic 15

Conflicting classifications of pathogenicity 10

Benign 9

Benign/Likely benign 2

Likely benign 40

Uncertain significance 180