COA3 — 43 ClinVar variants
All ClinVar germline COA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Conflicting · 9 Likely benign · 33 Uncertain significance
Full COA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COA3 p.Ala41Val Uncertain significance Multiple submitters
- COA3 p.Arg96Gln Uncertain significance Multiple submitters
- COA3 p.Arg98Gly Uncertain significance Multiple submitters
- COA3 p.Gly5Arg Uncertain significance Multiple submitters
- COA3 p.Ala70Val Uncertain significance Single submitter
- COA3 p.Arg14Leu Uncertain significance Single submitter
- COA3 p.Arg52Trp Uncertain significance Single submitter
- COA3 p.Arg83Gly Uncertain significance Single submitter
- COA3 p.Gly61Ser Uncertain significance Single submitter
-
COA3 p.Gly65Glu
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 14
- COA3 p.Ile23Met Uncertain significance Single submitter
- COA3 p.Ile64Val Uncertain significance Single submitter
- COA3 p.Ile71Val Uncertain significance Single submitter
- COA3 p.Lys13Asn Uncertain significance Single submitter
- COA3 p.Pro32Ala Uncertain significance Single submitter
- COA3 p.Pro9Leu Uncertain significance Single submitter
- COA3 p.Ser4Leu Uncertain significance Single submitter
-
COA3 p.Tyr72Cys
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 1
- COA3 p.Tyr74Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- COA3 p.Ala101Pro Uncertain significance Multiple submitters
- COA3 p.Arg96Pro Uncertain significance Multiple submitters
-
COA3 p.Val68Leu
Uncertain significance
Multiple submitters
mitochondrial complex IV deficiency, nuclear type 14
- COA3 p.Ala99Pro Uncertain significance Single submitter
- COA3 p.Arg83Cys Uncertain significance Single submitter
- COA3 p.Met38Thr Uncertain significance Single submitter
- COA3 p.Ser106Phe Uncertain significance Single submitter
- COA3 p.Thr31Ile Uncertain significance Single submitter
All COA3 variants
Conflicting classifications of pathogenicity 1
- p.Arg98Ter Single submitter mitochondrial complex IV deficiency, nuclear type 14
Likely benign 9
- c.214+17_214+19dup Single submitter
- c.215-16G>C Single submitter
- p.Arg102= Single submitter
- p.Glu82= Single submitter
- p.Glu89Lys Single submitter
- p.Ile64= Single submitter
- p.Thr75= Single submitter
- p.Tyr72= Single submitter
- c.*8G>A No assertion criteria COA3-related disorder
Uncertain significance 33
- p.Ala101Pro Multiple submitters ⚠
- p.Ala41Val Multiple submitters ⚠
- p.Arg96Gln Multiple submitters ⚠
- p.Arg96Pro Multiple submitters ⚠
- p.Arg98Gly Multiple submitters ⚠
- p.Gly5Arg Multiple submitters ⚠
- p.Val68Leu Multiple submitters mitochondrial complex IV deficiency, nuclear type 14 ⚠
- c.214+6C>T Single submitter
- p.Ala70Val Single submitter ⚠
- p.Ala99_Leu100insArgAla Single submitter
- p.Ala99Pro Single submitter ⚠
- p.Arg14Leu Single submitter ⚠
- p.Arg52fs Single submitter
- p.Arg52Trp Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg83Gly Single submitter ⚠
- p.Asn57Ser Single submitter
- p.Asp90fs Single submitter mitochondrial complex IV deficiency, nuclear type 14
- p.Gln34Lys Single submitter
- p.Gly61Ser Single submitter ⚠
- p.Gly65Glu Single submitter mitochondrial complex IV deficiency, nuclear type 14 ⚠
- p.Ile23Met Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Ile71Val Single submitter ⚠
- p.Lys13Asn Single submitter ⚠
- p.Met38Thr Single submitter ⚠
- p.Pro32Ala Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser106Phe Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Thr31Ile Single submitter ⚠
- p.Tyr72Cys Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
- p.Tyr74Phe Single submitter ⚠