Sugi Variant

Sugi Variant/TRIT1

TRIT1 — 178 ClinVar variants

All ClinVar germline TRIT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

5 Pathogenic · 7 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 7 Conflicting · 10 Benign · 5 Benign/Likely benign · 46 Likely benign · 93 Uncertain significance

Full TRIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 70

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

Predictors split 12

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

All TRIT1 variants

Pathogenic 5

  • p.Arg112Ter Multiple submitters
  • p.Gln190Ter Single submitter combined oxidative phosphorylation deficiency 35
  • p.Gln20Ter Single submitter
  • p.Glu295fs No assertion criteria combined oxidative phosphorylation deficiency 35
  • p.Lys391fs No assertion criteria combined oxidative phosphorylation deficiency 35

Pathogenic/Likely pathogenic 7

  • p.Arg112fs Multiple submitters TRIT1-related disorder
  • p.Arg150Ter Multiple submitters combined oxidative phosphorylation deficiency 35
  • p.Arg323Gln Multiple submitters combined oxidative phosphorylation deficiency 35 ⚠
  • p.Arg323Trp Multiple submitters TRIT1-related disorder
  • p.Arg8Ter Multiple submitters combined oxidative phosphorylation deficiency 35
  • p.Gln140fs Multiple submitters Inborn genetic diseases
  • p.Val344fs Multiple submitters combined oxidative phosphorylation deficiency 35

Likely pathogenic 5

  • p.Glu409Lys Multiple submitters combined oxidative phosphorylation deficiency 35
  • c.1235-2A>G Single submitter combined oxidative phosphorylation deficiency 35
  • p.Ile340fs Single submitter TRIT1-related disorder
  • p.Leu248Arg Single submitter TRIT1-related disorder
  • p.Pro362fs Single submitter combined oxidative phosphorylation deficiency 35

Conflicting classifications of pathogenicity 7

Benign 10

Benign/Likely benign 5

Likely benign 46

Uncertain significance 93