Sugi Variant

Sugi Variant/NSUN3

NSUN3 — 138 ClinVar variants

All ClinVar germline NSUN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 3 Benign · 2 Benign/Likely benign · 41 Likely benign · 86 Uncertain significance

Full NSUN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 lean, ClinVar uncertain 55

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

Predictors split 18

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

All NSUN3 variants

Pathogenic 4

  • p.Trp50Ter Single submitter Inborn genetic diseases
  • c.123-615_466+2155del No assertion criteria combined oxidative phosphorylation deficiency 48
  • p.Ala141Pro No assertion criteria combined oxidative phosphorylation deficiency 48
  • p.Cys152Ser No assertion criteria combined oxidative phosphorylation deficiency 48 ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

  • p.Gln181Ter Single submitter combined oxidative phosphorylation deficiency 48

Benign 3

Benign/Likely benign 2

Likely benign 41

Uncertain significance 86