Sugi Variant

Sugi Variant/NRAP

NRAP — 582 ClinVar variants

All ClinVar germline NRAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 13 Conflicting · 100 Benign · 12 Benign/Likely benign · 141 Likely benign · 294 Uncertain significance

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

⚑ Evidence disagreements 273

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 5

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

Predictors lean, ClinVar uncertain 204

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 204

Predictors split 64

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

All NRAP variants

Pathogenic 5

Pathogenic/Likely pathogenic 2

  • p.Arg1037Ter Multiple submitters NRAP-related disorder
  • p.Trp1033Ter Multiple submitters Non-dilated left ventricular cardiomyopathy

Likely pathogenic 15

Conflicting classifications of pathogenicity 13

Benign 100

Benign/Likely benign 12

Likely benign 141

Uncertain significance 294