ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.679C>G (p.Leu227Val)

dbSNP: rs2133606863
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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 RCV001887715 SCV002119184 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This sequence change replaces leucine with valine at codon 227 of the COX15 protein (p.Leu227Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (gnomAD no frequency). 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: 1354045). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV004762199 SCV005368342 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 2024-09-17 criteria provided, single submitter clinical testing Criteria applied: PM2,PM3_SUP,PP3

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