Submissions for variant NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)

gnomAD frequency: 0.42035  dbSNP: rs3738725

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363761	SCV000355278	benign	Autosomal recessive cerebellar ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000614034	SCV000355279	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	RCV000614034	SCV000745208	benign	Autosomal recessive ataxia due to ubiquinone deficiency	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676183	SCV001726138	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000614034	SCV001769147	benign	Autosomal recessive ataxia due to ubiquinone deficiency	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000676183	SCV001868172	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676183	SCV005281376	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116236	SCV000150153	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614034	SCV000733992	benign	Autosomal recessive ataxia due to ubiquinone deficiency		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676183	SCV000801936	benign	not provided	2016-02-11	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000116236	SCV001923627	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116236	SCV001956767	benign	not specified		no assertion criteria provided	clinical testing