Sugi Variant

Sugi Variant/SMO

SMO — 221 ClinVar variants

All ClinVar germline SMO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

8 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 23 Benign · 8 Benign/Likely benign · 49 Likely benign · 127 Uncertain significance

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

⚑ Evidence disagreements 111

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 1

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 34

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

All SMO variants

Pathogenic 8

  • p.Leu412Phe Multiple submitters Curry-Jones syndrome ⚠
  • p.Arg576Trp Single submitter congenital hypothalamic hamartoma syndrome
  • p.Arg261Cys No assertion criteria congenital hypothalamic hamartoma syndrome
  • p.Arg562Gln No assertion criteria Basal cell carcinoma, somatic
  • p.Arg576Gln No assertion criteria congenital hypothalamic hamartoma syndrome
  • p.Glu447Ter No assertion criteria congenital hypothalamic hamartoma syndrome
  • p.Ile429Phe No assertion criteria congenital hypothalamic hamartoma syndrome
  • p.Trp535Leu No assertion criteria Basal cell carcinoma, somatic ⚠

Likely pathogenic 2

  • p.Arg400Cys Single submitter congenital hypothalamic hamartoma syndrome
  • p.Phe252Leu Single submitter congenital hypothalamic hamartoma syndrome

Conflicting classifications of pathogenicity 4

Benign 23

Benign/Likely benign 8

Likely benign 49

Uncertain significance 127