ARGLU1 — 19 ClinVar variants
All ClinVar germline ARGLU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Benign · 3 Likely benign · 15 Uncertain significance
Full ARGLU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARGLU1 p.Arg155Gln Uncertain significance Single submitter
- ARGLU1 p.Asp33Glu Uncertain significance Single submitter
- ARGLU1 p.Asp71Glu Uncertain significance Single submitter
- ARGLU1 p.Leu125Val Uncertain significance Single submitter
- ARGLU1 p.Ser66Tyr Uncertain significance Single submitter
- ARGLU1 p.Ser76Leu Uncertain significance Single submitter
- ARGLU1 p.Thr63Pro Uncertain significance Single submitter
- ARGLU1 p.Val65Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ARGLU1 p.Arg159Gln Uncertain significance Single submitter
- ARGLU1 p.Arg195His Uncertain significance Single submitter
- ARGLU1 p.Gln187Arg Uncertain significance Single submitter
- ARGLU1 p.Ile255Val Uncertain significance Single submitter
- ARGLU1 p.Lys106Glu Uncertain significance Single submitter
- ARGLU1 p.Ser58Ala Uncertain significance Single submitter
All ARGLU1 variants
Benign 1
- p.Ala186Thr No assertion criteria ARGLU1-related disorder
Likely benign 3
Uncertain significance 15
- p.Arg155Gln Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Asp33Glu Single submitter ⚠
- p.Asp71Glu Single submitter ⚠
- p.Gln187Arg Single submitter ⚠
- p.Ile255Val Single submitter ⚠
- p.Leu125Val Single submitter ⚠
- p.Lys106Glu Single submitter ⚠
- p.Lys106Ter Single submitter
- p.Ser58Ala Single submitter ⚠
- p.Ser66Tyr Single submitter ⚠
- p.Ser76Leu Single submitter ⚠
- p.Thr63Pro Single submitter ⚠
- p.Val65Gly Single submitter ⚠