Sugi Variant

Sugi Variant/TMPRSS15

TMPRSS15 — 658 ClinVar variants

All ClinVar germline TMPRSS15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

47 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 15 Conflicting · 26 Benign · 13 Benign/Likely benign · 263 Likely benign · 263 Uncertain significance

Full TMPRSS15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 11

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

Predictors lean, ClinVar uncertain 193

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 193

Predictors split 45

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

All TMPRSS15 variants

Pathogenic 47

Pathogenic/Likely pathogenic 5

  • p.Arg871Ter Multiple submitters congenital enteropathy due to enteropeptidase deficiency
  • p.Asn480Ter Multiple submitters congenital enteropathy due to enteropeptidase deficiency
  • p.Leu765fs Multiple submitters congenital enteropathy due to enteropeptidase deficiency
  • p.Lys775fs Multiple submitters congenital enteropathy due to enteropeptidase deficiency
  • p.Val451fs Multiple submitters congenital enteropathy due to enteropeptidase deficiency

Likely pathogenic 26

Conflicting classifications of pathogenicity 15

Benign 26

Benign/Likely benign 13

Likely benign 263

Uncertain significance 263