ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter)

gnomAD frequency: 0.00003  dbSNP: rs753254213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427838 SCV000517231 pathogenic not provided 2022-10-13 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); This variant is associated with the following publications: (PMID: 31589614, 33677064, 32553579, 34663476, 32337771, 24164873)
Labcorp Genetics (formerly Invitae), Labcorp RCV000427838 SCV003291277 pathogenic not provided 2024-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg410*) in the COQ8A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COQ8A are known to be pathogenic (PMID: 18319074, 20580948). This variant is present in population databases (rs753254213, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with autosomal recessive cerebellar ataxia (PMID: 24164873). ClinVar contains an entry for this variant (Variation ID: 379797). For these reasons, this variant has been classified as Pathogenic.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527640 SCV001738752 uncertain significance Global developmental delay 2020-01-01 no assertion criteria provided clinical testing

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