Sugi Variant

Sugi Variant/OSGEP

OSGEP — 125 ClinVar variants

All ClinVar germline OSGEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 3 Conflicting · 10 Benign · 5 Benign/Likely benign · 39 Likely benign · 53 Uncertain significance

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

⚑ Evidence disagreements 51

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 2

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

Predictors lean, ClinVar uncertain 32

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

Predictors split 17

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

All OSGEP variants

Pathogenic 5

Pathogenic/Likely pathogenic 3

  • p.Arg247Gln Multiple submitters Galloway-Mowat syndrome 3
  • p.Arg280Cys Multiple submitters OSGEP-related disorder
  • p.Arg280His Multiple submitters Galloway-Mowat syndrome 3

Likely pathogenic 7

Conflicting classifications of pathogenicity 3

Benign 10

Benign/Likely benign 5

Likely benign 39

Uncertain significance 53