ARC — 24 ClinVar variants
All ClinVar germline ARC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Benign · 2 Likely benign · 20 Uncertain significance
Full ARC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARC p.Ala144Ser Uncertain significance Single submitter
- ARC p.Arg129His Uncertain significance Single submitter
- ARC p.Arg392Gln Uncertain significance Single submitter
- ARC p.Asp374Asn Uncertain significance Single submitter
- ARC p.Asp4Glu Uncertain significance Single submitter
- ARC p.Leu333Phe Uncertain significance Single submitter
- ARC p.Pro383Ala Uncertain significance Single submitter
- ARC p.Pro395Thr Uncertain significance Single submitter
- ARC p.Ser385Arg Uncertain significance Single submitter
- ARC p.Val169Leu Uncertain significance Single submitter
- ARC p.Val79Glu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ARC p.Arg107Cys Uncertain significance Single submitter
- ARC p.Arg304His Uncertain significance Single submitter
- ARC p.Arg335Cys Uncertain significance Single submitter
- ARC p.Asp307Glu Uncertain significance Single submitter
- ARC p.Cys34Tyr Uncertain significance Single submitter
- ARC p.Glu58Gly Uncertain significance Single submitter
- ARC p.Leu348Phe Uncertain significance Single submitter
- ARC p.Lys305Arg Uncertain significance Single submitter
- ARC p.Trp87Gly Uncertain significance Single submitter
All ARC variants
Uncertain significance 20
- p.Ala144Ser Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg129His Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg335Cys Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Asp307Glu Single submitter ⚠
- p.Asp374Asn Single submitter ⚠
- p.Asp4Glu Single submitter ⚠
- p.Cys34Tyr Single submitter ⚠
- p.Glu58Gly Single submitter ⚠
- p.Leu333Phe Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Lys305Arg Single submitter ⚠
- p.Pro383Ala Single submitter ⚠
- p.Pro395Thr Single submitter ⚠
- p.Ser385Arg Single submitter ⚠
- p.Trp87Gly Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val79Glu Single submitter ⚠