Sugi Variant

Sugi Variant/SGMS2

SGMS2 — 181 ClinVar variants

All ClinVar germline SGMS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Conflicting · 11 Benign · 6 Benign/Likely benign · 56 Likely benign · 102 Uncertain significance

Full SGMS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 2

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

Predictors lean, ClinVar uncertain 67

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

Predictors split 19

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

All SGMS2 variants

Pathogenic 2

  • p.Met64Arg Single submitter calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia ⚠
  • p.Ile62Ser No assertion criteria calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia ⚠

Pathogenic/Likely pathogenic 1

  • p.Arg50Ter Multiple submitters Inborn genetic diseases

Conflicting classifications of pathogenicity 3

Benign 11

Benign/Likely benign 6

Likely benign 56

Uncertain significance 102