ClinVar Miner

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

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Total submissions: 7
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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 likely pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The R271C variant has been reported previously in the homozygous state or in conjunction with another ADCK3 variant in individuals with ADCK3-related disorders including juvenile or adult onset cerebellar ataxia and childhood onset epileptic encephalopathy (Horvath et al., 2012; Mignot et al., 2013; Bargiela et al., 2015; Thevenon et al., 2016). The 271C variant is observed in 20/25,144 (0.08%) alleles from individuals of Finnish background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
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
GeneReviews RCV000416392 SCV000494104 pathogenic Coenzyme Q10 deficiency, primary, 4 2016-06-07 no assertion criteria provided literature only

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