CCL2 — 8 ClinVar variants
All ClinVar germline CCL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
1 Benign · 1 Likely benign · 6 Uncertain significance
Full CCL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 3
The independent predictors disagree with each other — read with care.
All CCL2 variants
Benign 1
- p.Cys35= No assertion criteria CCL2-related disorder
Likely benign 1
- p.Leu48= No assertion criteria CCL2-related disorder
Uncertain significance 6
- p.Ala15Pro Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Asp85Tyr Single submitter ⚠
- p.Met87Val Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Thr55Ser Single submitter ⚠