ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.65C>T (p.Pro22Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004729605 SCV005331910 uncertain significance not provided 2024-02-29 criteria provided, single submitter clinical testing In vitro functional studies indicate minimal to no impact on yeast growth rate, but additional research is needed to fully understand the impact of this variant on human disease (PMID: 23758206); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23758206, 35483523)

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