ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.23_33del (p.Val8fs)

dbSNP: rs886041549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000401792 SCV000330224 pathogenic not provided 2022-08-19 criteria provided, single submitter clinical testing Identified in an infant with CoQ10 deficiency who harbored a likely pathogenic variant on the opposite allele (in trans) (Sondheimer et al., 2017); Frameshift 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); This variant is associated with the following publications: (PMID: 28540186)
Labcorp Genetics (formerly Invitae), Labcorp RCV001855066 SCV002244751 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2023-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280320). This premature translational stop signal has been observed in individual(s) with coenzyme Q10 deficiency (PMID: 28540186). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Val8Alafs*19) 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).
Fulgent Genetics, Fulgent Genetics RCV005049510 SCV005679925 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing

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