ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)

dbSNP: rs201618750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622771 SCV000740768 likely pathogenic Inborn genetic diseases 2014-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332315 SCV001524592 likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2020-08-20 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002531877 SCV002955813 pathogenic not provided 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COQ8A protein in which other variant(s) (p.Ser608Phe) have been determined to be pathogenic (PMID: 30968303). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 520594). This variant has not been reported in the literature in individuals affected with COQ8A-related conditions. This variant is present in population databases (rs201618750, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Tyr607*) in the COQ8A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the COQ8A protein.
Athena Diagnostics RCV002531877 SCV005621402 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant is not expected to cause loss of protein expression through nonsense-mediated decay, however, it may still disrupt protein function.

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