Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000388682 | SCV000355247 | uncertain significance | Autosomal recessive cerebellar ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
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. |
Gene |
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, |
RCV000416392 | SCV000593039 | likely pathogenic | Coenzyme Q10 deficiency, primary, 4 | 2016-09-06 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000493536 | SCV000701080 | uncertain significance | not provided | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000416392 | SCV000965805 | uncertain significance | Coenzyme Q10 deficiency, primary, 4 | 2014-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000416392 | SCV000494104 | pathogenic | Coenzyme Q10 deficiency, primary, 4 | 2016-06-07 | no assertion criteria provided | literature only |