Sugi Variant

Sugi Variant/NRL

NRL — 193 ClinVar variants

All ClinVar germline NRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

13 Pathogenic · 8 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 7 Conflicting · 6 Benign · 5 Benign/Likely benign · 34 Likely benign · 112 Uncertain significance

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

⚑ Evidence disagreements 93

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 1

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 63

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 NRL variants

Pathogenic 13

Pathogenic/Likely pathogenic 8

  • p.Arg31Ter Multiple submitters retinitis pigmentosa 27
  • p.Pro51Leu Multiple submitters NRL-related disorders
  • p.Pro51Ser Multiple submitters NRL-related disorders
  • p.Pro51Thr Multiple submitters NRL-related disorders
  • p.Ser50Leu Multiple submitters inherited retinal dystrophy
  • p.Ser50Pro Multiple submitters NRL-related disorders
  • p.Ser6fs Multiple submitters NRL-related disorders
  • p.Tyr113Ter Multiple submitters retinitis pigmentosa 27

Likely pathogenic 8

  • c.382-1G>A Single submitter NRL-related disorders
  • p.Arg154fs Single submitter enhanced S-cone syndrome 2
  • p.Gln124Pro Single submitter inherited retinal dystrophy ⚠
  • p.Gln80Ter Single submitter NRL-related disorders
  • p.Leu160Pro Single submitter enhanced S-cone syndrome 2
  • p.Pro51Arg Single submitter retinitis pigmentosa 27
  • p.Ser38fs Single submitter NRL-related disorders
  • p.Ser50del Single submitter retinitis pigmentosa 27

Conflicting classifications of pathogenicity 7

Benign 6

  • c.*221G>A Multiple submitters retinitis pigmentosa
  • c.*834G>C Multiple submitters retinitis pigmentosa
  • c.*1118G>A Single submitter retinitis pigmentosa
  • c.*173A>T Single submitter retinitis pigmentosa
  • c.*558C>T Single submitter retinitis pigmentosa
  • c.*667C>T Single submitter retinitis pigmentosa

Benign/Likely benign 5

Likely benign 34

Uncertain significance 112