ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.589-3C>G

gnomAD frequency: 0.00001  dbSNP: rs1229054489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647226 SCV001519124 pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002546249 SCV003524121 pathogenic not provided 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 24164873). ClinVar contains an entry for this variant (Variation ID: 1027504). This variant has been observed in individuals with clinical features of primary coenzyme Q10 deficiency (PMID: 24164873, 31890231, 32337771). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change falls in intron 3 of the COQ8A gene. It does not directly change the encoded amino acid sequence of the COQ8A protein. It affects a nucleotide within the consensus splice site.

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