Sugi Variant

Sugi Variant/TOPORS

TOPORS — 763 ClinVar variants

All ClinVar germline TOPORS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 468 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 58 Conflicting · 9 Benign · 23 Benign/Likely benign · 162 Likely benign · 491 Uncertain significance

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

⚑ Evidence disagreements 468

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 42

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 359

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 359

Predictors split 64

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

All TOPORS variants

Pathogenic 5

Pathogenic/Likely pathogenic 3

  • p.Arg847Ter Multiple submitters inherited retinal dystrophy
  • p.Glu852fs Multiple submitters TOPORS-related disorder
  • p.His855fs Multiple submitters TOPORS-related disorder

Likely pathogenic 12

Conflicting classifications of pathogenicity 58

Benign 9

  • c.-28G>C Multiple submitters retinitis pigmentosa
  • p.Asp997= Multiple submitters inherited retinal dystrophy
  • p.Leu574= Multiple submitters inherited retinal dystrophy
  • p.Pro20Ser Multiple submitters retinitis pigmentosa
  • p.Pro812Arg Multiple submitters retinitis pigmentosa
  • p.Ser773= Multiple submitters inherited retinal dystrophy
  • c.*9A>G Single submitter retinitis pigmentosa
  • p.Gln1025= Single submitter inherited retinal dystrophy
  • p.Val578= Single submitter inherited retinal dystrophy

Benign/Likely benign 23

  • p.Arg50= Multiple submitters inherited retinal dystrophy
  • p.Asn749Asp Multiple submitters retinitis pigmentosa
  • p.Gln413Pro Multiple submitters retinitis pigmentosa
  • p.Gln520= Multiple submitters retinitis pigmentosa
  • p.Glu839= Multiple submitters inherited retinal dystrophy
  • p.Gly783= Multiple submitters retinitis pigmentosa 31
  • p.His432= Multiple submitters inherited retinal dystrophy
  • p.His881Gln Multiple submitters retinitis pigmentosa
  • p.Ile272Val Multiple submitters retinitis pigmentosa
  • p.Leu568= Multiple submitters
  • p.Leu772= Multiple submitters retinitis pigmentosa
  • p.Leu996= Multiple submitters retinitis pigmentosa 31
  • p.Lys856Arg Multiple submitters retinitis pigmentosa
  • p.Pro23= Multiple submitters
  • p.Ser1002Asn Multiple submitters
  • p.Ser25Trp Multiple submitters inherited retinal dystrophy
  • p.Ser577Tyr Multiple submitters retinitis pigmentosa
  • p.Ser634= Multiple submitters inherited retinal dystrophy
  • p.Ser823Gly Multiple submitters retinitis pigmentosa
  • p.Thr455= Multiple submitters
  • p.Thr463= Multiple submitters retinitis pigmentosa
  • p.Tyr720= Multiple submitters retinitis pigmentosa
  • p.Tyr836Cys Multiple submitters

Likely benign 162

Uncertain significance 491

Showing the top 300 by review status; the full set is in the sitemap.