NSD3 — 140 ClinVar variants

All ClinVar germline NSD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

7 Benign · 10 Likely benign · 123 Uncertain significance

Full NSD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 lean, ClinVar uncertain 88

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

All NSD3 variants

Benign 7

Likely benign 10

  • p.Thr556Met Multiple submitters
  • p.Ala458Val Single submitter
  • p.Glu462= No assertion criteria NSD3-related disorder
  • p.Leu1266= No assertion criteria NSD3-related disorder
  • p.Pro464= No assertion criteria NSD3-related disorder
  • p.Ser653= No assertion criteria NSD3-related disorder
  • p.Ser754= No assertion criteria NSD3-related disorder
  • p.Val1175Ile No assertion criteria NSD3-related disorder
  • p.Val438= No assertion criteria NSD3-related disorder
  • p.Val79= No assertion criteria NSD3-related disorder

Uncertain significance 123