ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)

dbSNP: rs2126177139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269778 SCV002553156 likely pathogenic not provided 2022-01-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002505910 SCV002815974 likely pathogenic Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2021-11-18 criteria provided, single submitter clinical testing

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