ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.367+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510623 SCV002820109 uncertain significance Primary coenzyme Q10 deficiency 8 criteria provided, single submitter clinical testing The splice region variant c.367+5G>A in COQ7 (NM_016138.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.367+5G>A variant is observed in 2/33,978 (0.0059%) alleles from individuals of Latino background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The c.367+5G>A variant is predicted to disrupt splicing by all splice site algorithms. The nucleotide c.367+5G>A in COQ7 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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