ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.67G>A (p.Val23Met) (rs35582308)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123533 SCV000166871 benign not specified 2013-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000676176 SCV000840709 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095968 SCV001252148 uncertain significance Coenzyme Q10 deficiency, primary, 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676176 SCV001500884 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000676176 SCV001532566 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 23 of the COQ8A protein (p.Val23Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs35582308, ExAC 0.09%). This variant has not been reported in the literature in individuals with COQ8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 136295). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676176 SCV000801928 uncertain significance not provided 2016-02-24 no assertion criteria provided clinical testing

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