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