ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.1039del (p.Ile347fs)

dbSNP: rs766283832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002627322 SCV002971061 uncertain significance not provided 2022-02-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with COX15-related conditions. This variant is present in population databases (rs766283832, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile347Phefs*12) in the COX15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the COX15 protein.
Fulgent Genetics, Fulgent Genetics RCV005025917 SCV005658422 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 2024-04-12 criteria provided, single submitter clinical testing

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