Sugi Variant

Sugi Variant/NSUN2

NSUN2 — 653 ClinVar variants

All ClinVar germline NSUN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

29 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 27 Conflicting · 80 Benign · 23 Benign/Likely benign · 227 Likely benign · 240 Uncertain significance

Full NSUN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 204

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 7

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

Predictors lean, ClinVar uncertain 161

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 161

Predictors split 36

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

All NSUN2 variants

Pathogenic 29

Pathogenic/Likely pathogenic 6

  • c.360-1G>C Multiple submitters
  • p.Ala23fs Multiple submitters intellectual disability, autosomal recessive 5
  • p.Arg264Ter Multiple submitters autosomal recessive non-syndromic intellectual disability
  • p.Arg389Ter Multiple submitters intellectual disability, autosomal recessive 5
  • p.Arg408Ter Multiple submitters
  • p.Ser575fs Multiple submitters intellectual disability, autosomal recessive 5

Likely pathogenic 21

Conflicting classifications of pathogenicity 27

Benign 80

Benign/Likely benign 23

Likely benign 227

Uncertain significance 240