ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)

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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 RCV003052197 SCV003349456 pathogenic not provided 2024-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln182*) in the SCO2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 amino acid(s) of the SCO2 protein. This variant is present in population databases (rs200354211, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of SCO2-related conditions (PMID: 35094435). ClinVar contains an entry for this variant (Variation ID: 2130639). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475480 SCV004202359 pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2024-02-28 criteria provided, single submitter clinical testing

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