CSN3 — 30 ClinVar variants
All ClinVar germline CSN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 28 Uncertain significance
Full CSN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSN3 p.Ala119Thr Uncertain significance Single submitter
- CSN3 p.Arg88Ser Uncertain significance Single submitter
- CSN3 p.Asn73Ser Uncertain significance Single submitter
- CSN3 p.Ile129Val Uncertain significance Single submitter
- CSN3 p.Ile166Thr Uncertain significance Single submitter
- CSN3 p.Ile166Val Uncertain significance Single submitter
- CSN3 p.Ile69Thr Uncertain significance Single submitter
- CSN3 p.Pro28Ser Uncertain significance Single submitter
- CSN3 p.Pro74Ser Uncertain significance Single submitter
- CSN3 p.Thr151Ala Uncertain significance Single submitter
- CSN3 p.Thr174Ala Uncertain significance Single submitter
- CSN3 p.Thr79Ile Uncertain significance Single submitter
- CSN3 p.Val8Phe Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CSN3 p.Arg65Cys Uncertain significance Single submitter
- CSN3 p.Arg78His Uncertain significance Single submitter
- CSN3 p.Leu15Arg Uncertain significance Single submitter
- CSN3 p.Leu99Met Uncertain significance Single submitter
- CSN3 p.Pro16Ala Uncertain significance Single submitter
- CSN3 p.Pro170Arg Uncertain significance Single submitter
- CSN3 p.Pro52Ser Uncertain significance Single submitter
- CSN3 p.Pro56Arg Uncertain significance Single submitter
- CSN3 p.Pro67Thr Uncertain significance Single submitter
- CSN3 p.Thr143Ser Uncertain significance Single submitter
- CSN3 p.Thr151Met Uncertain significance Single submitter
- CSN3 p.Thr167Met Uncertain significance Single submitter
- CSN3 p.Tyr49Cys Uncertain significance Single submitter
- CSN3 p.Tyr63Phe Uncertain significance Single submitter
- CSN3 p.Val140Phe Uncertain significance Single submitter
All CSN3 variants
Likely benign 2
- p.Arg109His Single submitter
- p.Met48Ile Single submitter
Uncertain significance 28
- p.Ala119Thr Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Arg88Ser Single submitter ⚠
- p.Asn73Ser Single submitter ⚠
- p.Ile129Val Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile69Thr Single submitter ⚠
- p.Leu15Arg Single submitter ⚠
- p.Leu99Met Single submitter ⚠
- p.Pro16Ala Single submitter ⚠
- p.Pro170Arg Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Pro56Arg Single submitter ⚠
- p.Pro67Thr Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Thr143Ser Single submitter ⚠
- p.Thr151Ala Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr167Met Single submitter ⚠
- p.Thr174Ala Single submitter ⚠
- p.Thr79Ile Single submitter ⚠
- p.Tyr49Cys Single submitter ⚠
- p.Tyr63Phe Single submitter ⚠
- p.Val140Phe Single submitter ⚠
- p.Val8Phe Single submitter ⚠