Sugi Variant

Sugi Variant/TANGO2

TANGO2 — 475 ClinVar variants

All ClinVar germline TANGO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

18 Pathogenic · 10 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 10 Conflicting · 28 Benign · 8 Benign/Likely benign · 240 Likely benign · 147 Uncertain significance

Full TANGO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 8

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 38

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

All TANGO2 variants

Pathogenic 18

Pathogenic/Likely pathogenic 10

  • c.451+2T>A Multiple submitters Inborn genetic diseases
  • c.57-1G>C Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • c.605+1G>A Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • c.711-3C>G Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Arg32Ter Multiple submitters TANGO2-related disorder
  • p.Arg86Ter Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Cys2fs Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Gln212Ter Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Gly154Arg Multiple submitters Acute rhabdomyolysis
  • p.His94fs Multiple submitters recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Likely pathogenic 14

  • c.145+1G>A Single submitter
  • c.145+1G>T Single submitter recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • c.266-2A>G Single submitter
  • c.380+1G>A Single submitter recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • c.380+1G>T Single submitter TANGO2-related disorder
  • c.381-2A>G Single submitter
  • c.451+1G>A Single submitter
  • c.57-1G>A Single submitter
  • c.606-2A>G Single submitter
  • p.Arg237Lys Single submitter recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Arg26Lys Single submitter
  • p.Ile190_Leu197del Single submitter Acute rhabdomyolysis
  • p.Leu20Pro Single submitter recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • p.Tyr216Ter Single submitter recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Conflicting classifications of pathogenicity 10

Benign 28

Benign/Likely benign 8

Likely benign 240

Uncertain significance 147