Sugi Variant

Sugi Variant/NRROS

NRROS — 136 ClinVar variants

All ClinVar germline NRROS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →

7 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 5 Benign · 2 Benign/Likely benign · 16 Likely benign · 99 Uncertain significance

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

⚑ Evidence disagreements 100

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 2

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 15

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

All NRROS variants

Pathogenic 7

  • p.Gln104Ter No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Gln593Ter No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Gly420fs No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Leu10Pro No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications ⚠
  • p.Leu62Pro No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Leu64fs No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Thr549fs No assertion criteria seizures, early-onset, with neurodegeneration and brain calcifications

Likely pathogenic 5

  • p.Ala606fs Single submitter seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Arg567Ter Single submitter seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Glu373Ter Single submitter NRROS-related disorder
  • p.Leu661fs Single submitter seizures, early-onset, with neurodegeneration and brain calcifications
  • p.Trp240Ter Single submitter seizures, early-onset, with neurodegeneration and brain calcifications

Conflicting classifications of pathogenicity 2

  • p.Arg60Gln Single submitter seizures, early-onset, with neurodegeneration and brain calcifications ⚠
  • p.Tyr489His Single submitter Inborn genetic diseases ⚠

Benign 5

Benign/Likely benign 2

Likely benign 16

Uncertain significance 99