ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.656-1G>T

dbSNP: rs903436781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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).

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