CSAG1 — 18 ClinVar variants
All ClinVar germline CSAG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Benign · 2 Likely benign · 15 Uncertain significance
Full CSAG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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.
- CSAG1 p.Ala10Thr Uncertain significance Single submitter
- CSAG1 p.Ala17Thr Uncertain significance Single submitter
- CSAG1 p.Ala17Val Uncertain significance Single submitter
- CSAG1 p.Ala42Ser Uncertain significance Single submitter
- CSAG1 p.Arg18Gln Uncertain significance Single submitter
- CSAG1 p.Arg62Gly Uncertain significance Single submitter
- CSAG1 p.His50Leu Uncertain significance Single submitter
- CSAG1 p.Leu14Pro Uncertain significance Single submitter
- CSAG1 p.Pro67Leu Uncertain significance Single submitter
- CSAG1 p.Thr12Pro Uncertain significance Single submitter
- CSAG1 p.Val68Leu Uncertain significance Single submitter
All CSAG1 variants
Benign 1
- p.Pro54Arg Single submitter
Likely benign 2
- p.Arg18Trp Single submitter
- p.Ser52Pro Single submitter
Uncertain significance 15
- p.Ala10Thr Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala42Ser Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg41Pro Single submitter
- p.Arg62Gly Single submitter ⚠
- p.His50Leu Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Ser37Phe Single submitter
- p.Ser47Phe Single submitter
- p.Thr12Pro Single submitter ⚠
- p.Thr74Ile Single submitter
- p.Val68Leu Single submitter ⚠