COX5A — 29 ClinVar variants
All ClinVar germline COX5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
2 Pathogenic · 4 Likely benign · 23 Uncertain significance
Full COX5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COX5A p.Arg107Ser Uncertain significance Single submitter
- COX5A p.Gly30Asp Uncertain significance Single submitter
- COX5A p.His24Asn Uncertain significance Single submitter
- COX5A p.His24Tyr Uncertain significance Single submitter
- COX5A p.Pro19Arg Uncertain significance Single submitter
- COX5A p.Ser42Phe Uncertain significance Single submitter
- COX5A p.Ser45Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- COX5A p.Ala13Thr Uncertain significance Single submitter
- COX5A p.Ala32Asp Uncertain significance Single submitter
- COX5A p.Ala32Thr Uncertain significance Single submitter
- COX5A p.Ala54Gly Uncertain significance Single submitter
-
COX5A p.Arg55Cys
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 20
- COX5A p.Arg94Gln Uncertain significance Single submitter
- COX5A p.Arg98Gln Uncertain significance Single submitter
- COX5A p.Asp49His Uncertain significance Single submitter
- COX5A p.Gln46Arg Uncertain significance Single submitter
- COX5A p.His43Arg Uncertain significance Single submitter
- COX5A p.Ile139Leu Uncertain significance Single submitter
- COX5A p.Leu22His Uncertain significance Single submitter
- COX5A p.Leu6Phe Uncertain significance Single submitter
- COX5A p.Thr105Ile Uncertain significance Single submitter
- COX5A p.Thr76Ile Uncertain significance Single submitter
- COX5A p.Val106Ile Uncertain significance Single submitter
All COX5A variants
Pathogenic 2
- p.Arg107Cys No assertion criteria mitochondrial complex IV deficiency, nuclear type 20
- p.Ile89Ser No assertion criteria mitochondrial complex IV deficiency, nuclear type 20
Likely benign 4
- p.Ser25Cys Multiple submitters
- p.Ala12= Single submitter
- p.Asp90= Single submitter
- p.Ile74Met Single submitter
Uncertain significance 23
- p.Ala13Thr Single submitter ⚠
- p.Ala32Asp Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala54Gly Single submitter ⚠
- p.Arg107Ser Single submitter ⚠
- p.Arg55Cys Single submitter mitochondrial complex IV deficiency, nuclear type 20 ⚠
- p.Arg94Gln Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asp49His Single submitter ⚠
- p.Gln46Arg Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.His24Asn Single submitter ⚠
- p.His24Tyr Single submitter ⚠
- p.His43Arg Single submitter ⚠
- p.Ile139Leu Single submitter ⚠
- p.Leu22His Single submitter ⚠
- p.Leu6Phe Single submitter ⚠
- p.Pro19Arg Single submitter ⚠
- p.Ser42Phe Single submitter ⚠
- p.Ser45Leu Single submitter ⚠
- p.Thr105Ile Single submitter ⚠
- p.Thr76Ile Single submitter ⚠
- p.Val106Ile Single submitter ⚠