ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1358del (p.Leu453fs)

dbSNP: rs1271428051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986560 SCV001135579 pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869338 SCV002145693 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu453Argfs*24) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of coenzyme Q10 deficiency (PMID: 24164873). ClinVar contains an entry for this variant (Variation ID: 801627). For these reasons, this variant has been classified as Pathogenic.

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