NAA50 — 12 ClinVar variants
All ClinVar germline NAA50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
3 Benign · 9 Uncertain significance
Full NAA50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAA50 p.Arg71Thr Uncertain significance Single submitter
- NAA50 p.Asn153Ile Uncertain significance Single submitter
- NAA50 p.Asn52Ser Uncertain significance Single submitter
- NAA50 p.Glu130Asp Uncertain significance Single submitter
- NAA50 p.Ile88Met Uncertain significance Single submitter
- NAA50 p.Pro157Leu Uncertain significance Single submitter
- NAA50 p.Pro157Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All NAA50 variants
Benign 3
- c.145+8A>G Multiple submitters
- p.Gly89= No assertion criteria NAA50-related disorder
- p.Leu77= No assertion criteria NAA50-related disorder
Uncertain significance 9
- p.Arg5Gln Single submitter ⚠
- p.Arg71Thr Single submitter ⚠
- p.Asn153Ile Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Glu130Asp Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Ile88Met Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro157Ser Single submitter ⚠