Sugi Variant

Sugi Variant/STAG3

STAG3 — 240 ClinVar variants

All ClinVar germline STAG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 1 Conflicting · 30 Benign · 1 Benign/Likely benign · 35 Likely benign · 145 Uncertain significance

Full STAG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 108

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

Predictors split 25

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

All STAG3 variants

Pathogenic 12

  • p.Arg1018Ter Single submitter premature ovarian failure 8
  • p.Arg357Ter Single submitter primary ovarian failure
  • p.Gln941Ter Single submitter premature ovarian failure 8
  • p.Ser925fs Single submitter premature ovarian failure 8
  • c.1573+5G>A No assertion criteria premature ovarian failure 8
  • c.2394+1G>A No assertion criteria spermatogenic failure 61
  • p.Ala646fs No assertion criteria spermatogenic failure 61
  • p.Asn98fs No assertion criteria premature ovarian failure 8
  • p.Gln188fs No assertion criteria premature ovarian failure 8
  • p.Glu1128fs No assertion criteria PRIMARY OVARIAN FAILURE 8
  • p.Tyr650fs No assertion criteria premature ovarian failure 8
  • p.Tyr650Ter No assertion criteria premature ovarian failure 8

Pathogenic/Likely pathogenic 2

  • p.Arg926Ter Multiple submitters premature ovarian failure 8
  • p.Arg321His No assertion criteria premature ovarian failure 8

Likely pathogenic 14

Conflicting classifications of pathogenicity 1

Benign 30

Benign/Likely benign 1

Likely benign 35

Uncertain significance 145