ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.218T>A (p.Val73Asp)

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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 RCV003337751 SCV004047997 uncertain significance Primary coenzyme Q10 deficiency 8 criteria provided, single submitter clinical testing The missense c.218T>A (p.Val73Asp) variant in COQ7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is observed in 0.001% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Val at position 73 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Val73Asp in COQ7 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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