ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)

gnomAD frequency: 0.01103  dbSNP: rs55958233
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123541 SCV000166879 benign not specified 2014-01-25 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.
Illumina Laboratory Services, Illumina RCV000402436 SCV000355250 likely benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625389 SCV000355251 benign Autosomal recessive ataxia due to ubiquinone deficiency 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625389 SCV000745204 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625389 SCV001157067 benign Autosomal recessive ataxia due to ubiquinone deficiency 2023-11-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000123541 SCV001476093 benign not specified 2019-11-15 criteria provided, single submitter clinical testing
Invitae RCV000676179 SCV001721187 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625389 SCV002794551 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2021-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676179 SCV000801932 benign not provided 2016-02-29 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000123541 SCV001922308 benign not specified no assertion criteria provided clinical testing

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