Sugi Variant

Sugi Variant/SOX5

SOX5 — 334 ClinVar variants

All ClinVar germline SOX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

49 Pathogenic · 8 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 6 Conflicting · 6 Benign · 5 Benign/Likely benign · 51 Likely benign · 174 Uncertain significance

Full SOX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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 3

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

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 59

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

All SOX5 variants

Pathogenic 49

Pathogenic/Likely pathogenic 8

Likely pathogenic 35

Conflicting classifications of pathogenicity 6

Benign 6

Benign/Likely benign 5

Likely benign 51

Uncertain significance 174