ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.469C>T (p.Arg157Cys)

gnomAD frequency: 0.00001  dbSNP: rs988250515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003213365 SCV003909445 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.469C>T (p.R157C) alteration is located in exon 4 (coding exon 4) of the COX15 gene. This alteration results from a C to T substitution at nucleotide position 469, causing the arginine (R) at amino acid position 157 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur RCV005230466 SCV005880206 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 2024-02-27 criteria provided, single submitter clinical testing NM_078470.6:c.209G>A in the same patient

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