Sugi Variant

Sugi Variant/TOE1

TOE1 — 237 ClinVar variants

All ClinVar germline TOE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 9 Conflicting · 9 Benign · 5 Benign/Likely benign · 63 Likely benign · 119 Uncertain significance

Full TOE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 5

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 90

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

Predictors split 24

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

All TOE1 variants

Pathogenic 9

Pathogenic/Likely pathogenic 3

  • p.Gln314fs Multiple submitters TOE1-related disorder
  • p.Ala103Thr No assertion criteria pontocerebellar hypoplasia type 7 ⚠
  • p.Glu220Lys No assertion criteria pontocerebellar hypoplasia type 7 ⚠

Likely pathogenic 20

  • c.237-2A>G Single submitter pontocerebellar hypoplasia type 7
  • c.913-2A>G Single submitter pontocerebellar hypoplasia type 7
  • p.Arg182Ter Single submitter pontocerebellar hypoplasia type 7
  • p.Arg184Leu Single submitter pontocerebellar hypoplasia type 7 ⚠
  • p.Arg340Ter Single submitter pontocerebellar hypoplasia type 7
  • p.Asn255fs Single submitter pontocerebellar hypoplasia type 7
  • p.Asn391fs Single submitter
  • p.Gln108fs Single submitter pontocerebellar hypoplasia type 7
  • p.Leu125fs Single submitter
  • p.Leu180Gln Single submitter Inborn genetic diseases
  • p.Thr355fs Single submitter pontocerebellar hypoplasia type 7
  • p.Tyr283Ter Single submitter pontocerebellar hypoplasia type 7
  • p.Arg73Ser No assertion criteria pontocerebellar hypoplasia type 7 ⚠
  • p.His319= No assertion criteria pontocerebellar hypoplasia type 7
  • p.His319Tyr No assertion criteria pontocerebellar hypoplasia type 7
  • p.Phe239Ser No assertion criteria pontocerebellar hypoplasia type 7 ⚠
  • p.Phe303del No assertion criteria TOE1-related disorder
  • p.Pro313Ala No assertion criteria pontocerebellar hypoplasia type 7 ⚠
  • p.Ser496Phe No assertion criteria pontocerebellar hypoplasia type 7
  • p.Tyr231Ter No assertion criteria pontocerebellar hypoplasia type 7

Conflicting classifications of pathogenicity 9

Benign 9

Benign/Likely benign 5

Likely benign 63

Uncertain significance 119