COX8C — 17 ClinVar variants

All ClinVar germline COX8C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →

1 Benign · 1 Likely benign · 15 Uncertain significance

Full COX8C 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 8

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 7

The independent predictors disagree with each other — read with care.

All COX8C variants

Benign 1

p.Arg37= Single submitter

Likely benign 1

p.Ala60= Single submitter

Uncertain significance 15

p.Ala10Ser Single submitter ⚠
p.Arg11Cys Single submitter ⚠
p.Arg12Ser Single submitter ⚠
p.Arg15Cys Single submitter ⚠
p.Arg15Ser Single submitter ⚠
p.Arg16Cys Single submitter ⚠
p.Arg16His Single submitter ⚠
p.Arg5His Single submitter ⚠
p.Gln68Lys Single submitter ⚠
p.Leu48Pro Single submitter ⚠
p.Pro33Thr Single submitter ⚠
p.Thr53Met Single submitter ⚠
p.Tyr14Cys Single submitter ⚠
p.Val46Ala Single submitter ⚠
p.Val46Ile Single submitter ⚠