CCDC198 — 6 ClinVar variants
All ClinVar germline CCDC198 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Benign · 5 Uncertain significance
Full CCDC198 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All CCDC198 variants
Benign 1
- p.Gln183Ter Multiple submitters
Uncertain significance 5
- p.Glu267Lys Single submitter ⚠
- p.His188Gln Single submitter ⚠
- p.Ile240Thr Single submitter ⚠
- p.Leu227Phe Single submitter ⚠
- p.Leu247Phe Single submitter ⚠