Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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 |