ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141206 SCV003820455 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2019-01-15 criteria provided, single submitter clinical testing
GeneDx RCV003156407 SCV003845376 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003156407 SCV005050966 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing COQ8A: PM2:Supporting

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