ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.-23C>G

gnomAD frequency: 0.00013  dbSNP: rs368891722
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199029 SCV000251257 likely benign not specified 2015-11-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853172 SCV002310235 uncertain significance not provided 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 43 of the COQ2 protein (p.Ala43Gly). This variant is present in population databases (rs368891722, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214220). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002515384 SCV003730049 uncertain significance Inborn genetic diseases 2022-01-13 criteria provided, single submitter clinical testing The c.128C>G (p.A43G) alteration is located in exon 1 (coding exon 1) of the COQ2 gene. This alteration results from a C to G substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485558 SCV004235484 uncertain significance Coenzyme Q10 deficiency, primary, 1 2023-11-02 criteria provided, single submitter clinical testing

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