COA5 — 35 ClinVar variants
All ClinVar germline COA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Pathogenic · 1 Conflicting · 6 Benign · 15 Likely benign · 12 Uncertain significance
Full COA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COA5 p.Ala53Thr Uncertain significance Multiple submitters
- COA5 p.Ala66Val Uncertain significance Multiple submitters
- COA5 p.Arg39Gln Uncertain significance Single submitter
- COA5 p.Leu21Val Uncertain significance Single submitter
- COA5 p.Leu50Trp Uncertain significance Single submitter
- COA5 p.Ser28Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All COA5 variants
Pathogenic 1
- p.Ala53Pro No assertion criteria cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Conflicting classifications of pathogenicity 1
- c.*3C>G Single submitter
Benign 6
- c.100-239A>G Multiple submitters
- c.100-53A>G Multiple submitters
- c.99+28G>A Multiple submitters
- c.-130G>C Multiple submitters
- c.-300G>A Multiple submitters
- c.184-295G>A Single submitter
Likely benign 15
- c.-69C>G Multiple submitters
- c.-71C>T Multiple submitters
- p.Pro9Leu Multiple submitters
- c.100-169dup Single submitter
- c.183+160G>A Single submitter
- c.99+178T>C Single submitter
- c.99+184T>C Single submitter
- c.-23C>T Single submitter
- c.-32A>G Single submitter
- p.Ala15= Single submitter
- p.Ala53= Single submitter
- p.Leu21= Single submitter
- p.Lys8= Single submitter
- p.Pro9= Single submitter
- p.Ser28= Single submitter
Uncertain significance 12
- p.Ala53Thr Multiple submitters ⚠
- p.Ala66Val Multiple submitters ⚠
- c.100-3T>C Single submitter
- c.99+1G>A Single submitter
- p.Ala13Glu Single submitter
- p.Arg39Gln Single submitter ⚠
- p.Leu17Met Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu50Trp Single submitter ⚠
- p.Lys3Glu Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Ser28Leu Single submitter ⚠