ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.402+1G>A

dbSNP: rs747779231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817248 SCV000957798 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2023-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 660116). Disruption of this splice site has been observed in individuals with primary coenzyme Q10 deficiency (PMID: 31396399). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs747779231, gnomAD 0.03%). This sequence change affects a donor splice site in intron 4 of the COQ4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COQ4 are known to be pathogenic (PMID: 25658047).
Revvity Omics, Revvity RCV000817248 SCV002023372 likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2020-03-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480866 SCV004227139 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing PM2, PS1, PVS1

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