ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)

gnomAD frequency: 0.00140  dbSNP: rs76249490
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196173 SCV000251055 benign not specified 2014-12-03 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 RCV000285618 SCV000355225 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340629 SCV000355226 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513828 SCV000610777 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513828 SCV001121218 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000196173 SCV001476099 benign not specified 2020-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000340629 SCV002795170 benign Autosomal recessive ataxia due to ubiquinone deficiency 2022-01-07 criteria provided, single submitter clinical testing

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