ASPN — 14 ClinVar variants
All ClinVar germline ASPN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
6 Benign · 4 Likely benign · 4 Uncertain significance
Full ASPN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
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ASPN p.Gly192Glu
Benign
No assertion criteria
ASPN-related disorder
-
ASPN p.Met30Thr
Likely benign
No assertion criteria
ASPN-related disorder
All ASPN variants
Benign 6
- p.Asp38_Glu51= Single submitter
- p.Asp50_Glu51insAspAsp Single submitter osteoarthritis susceptibility 3
- p.Asp50_Glu51insAspAspAsp Single submitter
- p.Asp50_Glu51insAspAspAspAspAspAsp Single submitter
- p.Asp50del Single submitter
- p.Gly192Glu No assertion criteria ASPN-related disorder ⚠
Likely benign 4
- p.Asp44= No assertion criteria ASPN-related disorder
- p.Leu243= No assertion criteria ASPN-related disorder
- p.Met30Thr No assertion criteria ASPN-related disorder ⚠
- p.Ser126= No assertion criteria ASPN-related disorder
Uncertain significance 4
- p.Asn209Lys Single submitter ⚠
- p.Asp50_Glu51insAspAspAspAsp Single submitter
- p.Pro21His Single submitter ⚠
- p.Arg364Cys No assertion criteria ⚠