ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.385dup (p.Arg129fs)

dbSNP: rs1440543613
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894652 SCV002132282 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2022-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COQ4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg129Profs*21) in the COQ4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COQ4 are known to be pathogenic (PMID: 25658047).

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