Sugi Variant

Sugi Variant/NAA10

NAA10 — 197 ClinVar variants

All ClinVar germline NAA10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

12 Pathogenic · 7 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 17 Conflicting · 23 Benign · 6 Benign/Likely benign · 46 Likely benign · 69 Uncertain significance

Full NAA10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 44

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 NAA10 variants

Pathogenic 12

Pathogenic/Likely pathogenic 7

  • c.*39A>G Multiple submitters microphthalmia, syndromic 1
  • p.Ala87Ser Multiple submitters Ogden syndrome
  • p.Arg116Trp Multiple submitters Paediatric disorders
  • p.Arg83His Multiple submitters intellectual disability
  • p.His16Pro Multiple submitters neurodevelopmental disorder
  • p.Phe128Ile Multiple submitters NAA10-related syndrome
  • p.Pro39Leu Multiple submitters Ogden syndrome

Likely pathogenic 17

Conflicting classifications of pathogenicity 17

Benign 23

Benign/Likely benign 6

Likely benign 46

Uncertain significance 69