COX7C — 4 ClinVar variants
All ClinVar germline COX7C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely benign · 3 Uncertain significance
Full COX7C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All COX7C variants
Likely benign 1
- p.Val55Ile Single submitter ⚠
Uncertain significance 3
- p.Arg7Trp Single submitter ⚠
- p.Cys42Tyr Single submitter ⚠
- p.Thr51Ile Single submitter ⚠