ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.588+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1474965033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272750 SCV002556898 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096136 SCV002960832 likely pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the COQ8A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COQ8A are known to be pathogenic (PMID: 18319074, 20580948). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COQ8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1698893). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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