Sugi Variant

Sugi Variant/TARS2

TARS2 — 333 ClinVar variants

All ClinVar germline TARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 10 Conflicting · 49 Benign · 8 Benign/Likely benign · 113 Likely benign · 135 Uncertain significance

Full TARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 44

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

All TARS2 variants

Pathogenic/Likely pathogenic 2

  • c.695+3A>G Multiple submitters combined oxidative phosphorylation defect type 21
  • p.Arg684Gln No assertion criteria combined oxidative phosphorylation defect type 21 ⚠

Likely pathogenic 16

  • p.Arg346His Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.Arg586Ter Single submitter
  • p.Asp560His Single submitter combined oxidative phosphorylation defect type 21
  • p.Glu425Gly Single submitter combined oxidative phosphorylation defect type 21
  • p.Glu715Lys Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.His367Tyr Single submitter combined oxidative phosphorylation defect type 21
  • p.Pro282Leu Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.Ser258= Single submitter combined oxidative phosphorylation defect type 21
  • p.Ser64Ter Single submitter
  • p.Thr157Arg Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.Tyr332Ter Single submitter combined oxidative phosphorylation defect type 21
  • p.Arg327Gln No assertion criteria combined oxidative phosphorylation defect type 21 ⚠
  • p.Arg419Trp No assertion criteria combined oxidative phosphorylation defect type 21 ⚠
  • p.Gln634Ter No assertion criteria combined oxidative phosphorylation defect type 21
  • p.Glu440Lys No assertion criteria combined oxidative phosphorylation defect type 21
  • p.Pro155Leu No assertion criteria combined oxidative phosphorylation defect type 21 ⚠

Conflicting classifications of pathogenicity 10

  • p.Arg109Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg193Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg19Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg429Ter Single submitter combined oxidative phosphorylation defect type 21
  • p.Arg452Trp Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.Met53Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe416= Single submitter
  • p.Ser258Leu Single submitter combined oxidative phosphorylation defect type 21 ⚠
  • p.Trp526Ter Single submitter combined oxidative phosphorylation defect type 21
  • p.Val704Leu Single submitter Inborn genetic diseases ⚠

Benign 49

Benign/Likely benign 8

Likely benign 113

Uncertain significance 135