ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) (rs145034527)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388682 SCV000355247 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000416392 SCV000355248 likely pathogenic Coenzyme Q10 deficiency, primary, 4 2018-05-07 criteria provided, single submitter clinical testing The ADCK3 c.811C>T (p.Arg271Cys) missense variant has been reported in three studies in which it is found in at least four individuals with ataxia including in a homozygous state in one individual, in a compound heterozygous state in at least three individuals including two siblings (Horvath et al. 2012; Mignot et al. 2013; Bargiela et al. 2015). The p.Arg271Cys variant was absent from 100 healthy controls and is reported at a frequency of 0.00139 in the European (Finnish) population of the Exome Aggregation Consortium. The Arg271 residue is conserved across vertebrates. Based on the evidence, the p.Arg271Cys variant is classified as likely pathogenic for coenzyme Q10 deficiency, spinocerebellar ataxia type. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneDx RCV000493536 SCV000581788 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 24164873, 22036850, 26640698, 26757139, 29482223, 29915382, 30548255, 32637629, 32337771)
Genetic Services Laboratory, University of Chicago RCV000416392 SCV000593039 likely pathogenic Coenzyme Q10 deficiency, primary, 4 2016-09-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000493536 SCV000701080 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000416392 SCV000965805 uncertain significance Coenzyme Q10 deficiency, primary, 4 2014-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000493536 SCV001880606 likely pathogenic not provided 2020-11-23 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive. The results of an in vitro E. coli expression model suggest that this variant has a damaging effect on protein stability and folding, however additional research is needed to confirm these findings (PMID: 32337771). This variant segregates with disease in at least one family. Computational tools predict that this variant is damaging.
GeneReviews RCV000416392 SCV000494104 pathogenic Coenzyme Q10 deficiency, primary, 4 2016-06-07 no assertion criteria provided literature only

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