ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.67G>A (p.Val23Met)

gnomAD frequency: 0.00058  dbSNP: rs35582308
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123533 SCV000166871 benign not specified 2013-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000676176 SCV000840709 benign not provided 2021-11-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095968 SCV001252148 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000676176 SCV001500884 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676176 SCV001532566 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001095968 SCV002048160 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002512516 SCV003696546 uncertain significance Inborn genetic diseases 2022-11-15 criteria provided, single submitter clinical testing The c.67G>A (p.V23M) alteration is located in exon 2 (coding exon 1) of the COQ8A gene. This alteration results from a G to A substitution at nucleotide position 67, causing the valine (V) at amino acid position 23 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000676176 SCV000801928 uncertain significance not provided 2016-02-24 no assertion criteria provided clinical testing

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