Sugi Variant

Sugi Variant/TARS1

TARS1 — 129 ClinVar variants

All ClinVar germline TARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 13 Benign · 1 Benign/Likely benign · 14 Likely benign · 95 Uncertain significance

Full TARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 70

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

Predictors split 21

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

All TARS1 variants

Pathogenic 3

  • p.Arg638Ter No assertion criteria trichothiodystrophy 7, nonphotosensitive
  • p.Leu227Pro No assertion criteria trichothiodystrophy 7, nonphotosensitive
  • p.Lys276Glu No assertion criteria trichothiodystrophy 7, nonphotosensitive ⚠

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Benign 13

Benign/Likely benign 1

  • p.Gly21Asp Multiple submitters trichothiodystrophy 7, nonphotosensitive

Likely benign 14

Uncertain significance 95