Sugi Variant

Sugi Variant/SART3

SART3 — 138 ClinVar variants

All ClinVar germline SART3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

7 Likely pathogenic · 3 Benign · 2 Benign/Likely benign · 12 Likely benign · 114 Uncertain significance

Full SART3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 lean, ClinVar uncertain 94

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 SART3 variants

Likely pathogenic 7

  • p.Arg253Ter No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Arg493Trp No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Arg519Gly No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Arg767Trp No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Glu211Lys No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Pro718Leu No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis
  • p.Ser216Pro No assertion criteria Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis ⚠

Benign 3

Benign/Likely benign 2

Likely benign 12

Uncertain significance 114