Sugi Variant

Sugi Variant/TRIP13

TRIP13 — 233 ClinVar variants

All ClinVar germline TRIP13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

6 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 48 Benign · 5 Benign/Likely benign · 84 Likely benign · 85 Uncertain significance

Full TRIP13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 54

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

Predictors split 18

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

All TRIP13 variants

Pathogenic 6

  • p.Arg173Gln Single submitter oocyte maturation defect 9
  • p.Ile240fs Single submitter
  • c.673-1G>C No assertion criteria mosaic variegated aneuploidy syndrome 3
  • p.Arg354Ter No assertion criteria mosaic variegated aneuploidy syndrome 3
  • p.Ile198Val No assertion criteria oocyte maturation defect 9 ⚠
  • p.Val247Met No assertion criteria oocyte maturation defect 9

Likely pathogenic 3

Conflicting classifications of pathogenicity 2

Benign 48

Benign/Likely benign 5

Likely benign 84

Uncertain significance 85