ClinVar Miner

Submissions for variant NM_015697.9(COQ2):c.48dup (p.Ala17fs)

dbSNP: rs767298430
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224356 SCV000281077 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224356 SCV002283086 uncertain significance not provided 2022-07-12 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. ClinVar contains an entry for this variant (Variation ID: 235473). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. This variant is present in population databases (rs767298430, gnomAD 0.1%). This sequence change creates a premature translational stop signal (p.Ala17Argfs*76) in the COQ2 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294084 SCV002587345 likely pathogenic Focal segmental glomerulosclerosis 2021-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516225 SCV003754576 likely benign Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000224356 SCV004031975 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29255295)
Revvity Omics, Revvity RCV003485565 SCV004235485 uncertain significance Coenzyme Q10 deficiency, primary, 1 2023-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031807 SCV005669882 uncertain significance Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2024-06-19 criteria provided, single submitter clinical testing

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