ClinVar Miner

Submissions for variant NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)

gnomAD frequency: 0.00001  dbSNP: rs371993270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864084 SCV002118772 uncertain significance not provided 2023-08-30 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1358438). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. This variant is present in population databases (rs371993270, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 28 of the COQ2 protein (p.Ala28Glu).
Fulgent Genetics, Fulgent Genetics RCV002503400 SCV002784612 uncertain significance Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2021-09-30 criteria provided, single submitter clinical testing

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