Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995684 | SCV001149994 | pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549916 | SCV003310552 | uncertain significance | not provided | 2022-04-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change affects an acceptor splice site in intron 4 of the COQ8A gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with COQ8A-related conditions (PMID: 32830305). ClinVar contains an entry for this variant (Variation ID: 807530). Studies have shown that disruption of this splice site results in skipping of exon 5, but is expected to preserve the integrity of the reading-frame (PMID: 33098801). |