ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.800G>C (p.Ter267Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002473976 SCV002769920 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Normal stop codon changed to a serine codon, leading to the addition of an unknown number of amino acids at the C-terminus because the new stop codon cannot be predicted; Not observed at significant frequency in large population cohorts (gnomAD)
Fulgent Genetics, Fulgent Genetics RCV005032286 SCV005663916 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 2024-01-09 criteria provided, single submitter clinical testing

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