CNOT8 — 16 ClinVar variants
All ClinVar germline CNOT8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Likely benign · 15 Uncertain significance
Full CNOT8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNOT8 p.Arg173Cys Uncertain significance Single submitter
- CNOT8 p.Cys256Arg Uncertain significance Single submitter
- CNOT8 p.Gln219Glu Uncertain significance Single submitter
- CNOT8 p.Gln278Pro Uncertain significance Single submitter
- CNOT8 p.Ile30Thr Uncertain significance Single submitter
- CNOT8 p.Ile51Val Uncertain significance Single submitter
- CNOT8 p.Lys26Arg Uncertain significance Single submitter
- CNOT8 p.Lys280Arg Uncertain significance Single submitter
- CNOT8 p.Pro175Arg Uncertain significance Single submitter
- CNOT8 p.Ser282Arg Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CNOT8 variants
Likely benign 1
- p.Leu244= Single submitter
Uncertain significance 15
- p.Ala285Val Single submitter ⚠
- p.Arg173Cys Single submitter ⚠
- p.Asn289Ile Single submitter ⚠
- p.Cys256Arg Single submitter ⚠
- p.Gln219Glu Single submitter ⚠
- p.Gln278Pro Single submitter ⚠
- p.Glu29Gln Single submitter ⚠
- p.Ile30Thr Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Leu71Ile Single submitter ⚠
- p.Lys26Arg Single submitter ⚠
- p.Lys280Arg Single submitter ⚠
- p.Pro175Arg Single submitter ⚠
- p.Ser18Gly Single submitter ⚠
- p.Ser282Arg Single submitter ⚠