Sugi Variant

Sugi Variant/NPR3

NPR3 — 164 ClinVar variants

All ClinVar germline NPR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 27 Benign · 4 Benign/Likely benign · 65 Likely benign · 62 Uncertain significance

Full NPR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

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 44

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 NPR3 variants

Pathogenic 1

Likely pathogenic 2

  • p.Asp363Val Single submitter Boudin-Mortier syndrome
  • p.Gly410fs Single submitter Boudin-Mortier syndrome

Conflicting classifications of pathogenicity 3

Benign 27

Benign/Likely benign 4

Likely benign 65

Uncertain significance 62