ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.993C>T (p.Phe331=) (rs41303129)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000415784 SCV000166878 benign not provided 2018-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26764160, 27884173, 27535533, 18319074, 32337771)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180351 SCV000232764 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000180351 SCV000258150 benign not specified 2015-04-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000003830 SCV000355249 benign Coenzyme Q10 deficiency, primary, 4 2018-03-06 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415784 SCV000493421 likely benign not provided 2017-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180351 SCV000538237 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency in ExAC 2.8% in european population with (24 homozygotes). Also Benign in Clinvar (by GeneDx and Emory)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000003830 SCV000884981 benign Coenzyme Q10 deficiency, primary, 4 2019-04-18 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258271 SCV001435196 benign Joubert syndrome 17 criteria provided, single submitter research The c.993C>T (p.Phe331=) variant in ADCK3 has been identified in a French and Algerian individual with ubiquinone deficiency with cerebellar ataxia (PMID: 18319074), but has also been identified in >4% of European (Finnish) chromosomes and 33 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the c.993C>T variant may not impact protein function (PMID: 18319074). However, these types of assays may not accurately represent biological function. In summary, this variant meets criteria to be classified as benign for autosomal recessive ubiquinone deficiency with cerebellar ataxia.
Invitae RCV000415784 SCV001724874 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
OMIM RCV000003830 SCV000023995 pathogenic Coenzyme Q10 deficiency, primary, 4 2008-03-01 no assertion criteria provided literature only
GeneReviews RCV000003830 SCV000494096 pathogenic Coenzyme Q10 deficiency, primary, 4 2016-06-07 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000415784 SCV000801931 benign not provided 2016-02-25 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000180351 SCV001742409 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000180351 SCV001924656 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000415784 SCV001931737 likely benign not provided no assertion criteria provided clinical testing

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