COA1 — 21 ClinVar variants
All ClinVar germline COA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 20 Uncertain significance
Full COA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COA1 p.Ala60Thr Uncertain significance Single submitter
- COA1 p.Asp118Asn Uncertain significance Single submitter
- COA1 p.Gln61Glu Uncertain significance Single submitter
- COA1 p.Glu138Asp Uncertain significance Single submitter
- COA1 p.Gly140Asp Uncertain significance Single submitter
- COA1 p.Gly29Ala Uncertain significance Single submitter
- COA1 p.His105Arg Uncertain significance Single submitter
- COA1 p.Ile37Phe Uncertain significance Single submitter
- COA1 p.Leu68Phe Uncertain significance Single submitter
- COA1 p.Leu75Val Uncertain significance Single submitter
- COA1 p.Pro111Ser Uncertain significance Single submitter
- COA1 p.Trp3Arg Uncertain significance Single submitter
- COA1 p.Tyr6Asn Uncertain significance Single submitter
- COA1 p.Val104Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- COA1 p.Arg18Ser Uncertain significance Single submitter
- COA1 p.Gly110Asp Uncertain significance Single submitter
- COA1 p.Gly28Arg Uncertain significance Single submitter
- COA1 p.Leu117Phe Uncertain significance Single submitter
- COA1 p.Val132Ala Uncertain significance Single submitter
- COA1 p.Val33Glu Uncertain significance Single submitter
All COA1 variants
Likely benign 1
- p.Tyr103= Single submitter
Uncertain significance 20
- p.Ala60Thr Single submitter ⚠
- p.Arg18Ser Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Glu138Asp Single submitter ⚠
- p.Gly110Asp Single submitter ⚠
- p.Gly140Asp Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly29Ala Single submitter ⚠
- p.His105Arg Single submitter ⚠
- p.Ile37Phe Single submitter ⚠
- p.Leu117Phe Single submitter ⚠
- p.Leu68Phe Single submitter ⚠
- p.Leu75Val Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Trp3Arg Single submitter ⚠
- p.Tyr6Asn Single submitter ⚠
- p.Val104Ile Single submitter ⚠
- p.Val132Ala Single submitter ⚠
- p.Val33Glu Single submitter ⚠