ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.784C>T (p.Arg262Ter)

gnomAD frequency: 0.00004  dbSNP: rs774366079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778265 SCV000914438 uncertain significance Leigh syndrome 2018-10-25 criteria provided, single submitter clinical testing The COX15 c.784C>T (p.Arg262Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.000015 in the African population of the Genome Aggregation Database. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for mitochondrial respiratory chain complex IV deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV002535631 SCV003312791 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg262*) in the COX15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COX15 are known to be pathogenic (PMID: 15863660, 21412973). This variant is present in population databases (rs774366079, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with COX15-related conditions. ClinVar contains an entry for this variant (Variation ID: 631620). For these reasons, this variant has been classified as Pathogenic.

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