ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002578538 SCV002945472 pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln161*) in the SCO2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the SCO2 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SCO2 protein in which other variant(s) (p.Gly193Ser) have been determined to be pathogenic (PMID: 19353847, 29193756, 32600061). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1911265). This variant has not been reported in the literature in individuals affected with SCO2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003475398 SCV004202357 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2023-10-21 criteria provided, single submitter clinical testing

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