ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)

gnomAD frequency: 0.00007  dbSNP: rs759470563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710472 SCV000840701 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332314 SCV001524590 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000710472 SCV002000806 uncertain significance not provided 2022-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000710472 SCV002977526 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 366 of the COQ8A protein (p.Gln366Arg). This variant is present in population databases (rs759470563, gnomAD 0.02%). 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: 585373). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COQ8A protein function. 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.

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