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Basic Characteristics of Mutations
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Mutation Site
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A29510C |
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Mutation Site Sentence
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A more detailed analysis of SNPs called in the N gene in the outbreak strain indicated that, after excluding the six BA.5.1 marker SNVs [C28311T (P13L), -28,362- (DEL31/33), G28881A (R203K), G28882A (R203K), G28883C (G204R) and A29510C (S413R)] (https://outbreak.info/), the outbreak strain harbored only one other SNV in the N gene (the synonymous mutation C29200T). |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Nonsynonymous substitution |
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Gene/Protein/Region
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N |
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Standardized Encoding Gene
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N
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Genotype/Subtype
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BA.5.1 |
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Viral Reference
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NC_045512.2
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Functional Impact and Mechanisms
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Disease
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COVID-19
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Immune
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- |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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- |
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Treatment
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- |
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Location
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Spain |
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Literature Information
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PMID
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37460980
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Title
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A mutation responsible for impaired detection by the Xpert SARS-CoV-2 assay independently emerged in different lineages during the SARS-CoV-2 pandemic
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Author
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Penas-Utrilla D,Sanz A,Catalan P,Veintimilla C,Alcala L,Alonso R,Munoz P,Perez-Lago L,Garcia de Viedma D
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Journal
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BMC microbiology
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Journal Info
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2023 Jul 17;23(1):190
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Abstract
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BACKGROUND: COVID-19 diagnosis lies on the detection of SARS-CoV-2 on nasopharyngeal specimens by RT-PCR. The Xpert-Xpress SARS-CoV-2 assay provides results in less than one hour from specimen reception, which makes it suitable for clinical/epidemiological circumstances that require faster responses. The analysis of a COVID-19 outbreak suspected in the neonatology ward from our institution showed that the Ct values obtained for the targeted genes in the Xpert assay were markedly different within each specimen (N Ct value > 20 cycles above the E Ct value). RESULTS: We identified the mutation C29200T in the N gene as responsible for an impairment in the N gene amplification by performing whole genome sequencing of the specimens involved in the outbreak (Omicron variant). Subsequently, a retrospective analysis of all specimens sequenced in our institution allowed us to identify the same SNP as responsible for similar impairments in another 12 cases (42% of the total cases reported in the literature). Finally, we found that the same SNP emerged in five different lineages independently, throughout almost all the COVID-19 pandemic. CONCLUSIONS: We demonstrated for the first time the impact of this SNP on the Xpert assay, when harbored by new Omicron variants. We extend our observation period throughout almost all the COVID-19 pandemic, offering the most updated observations of this phenomenon, including sequences from the seventh pandemic wave, until now absent in the reports related to this issue. Continuous monitoring of emerging SNPs that could affect the performance of the most commonly used diagnostic tests, is required to redesign the tests to restore their correct performance.
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Sequence Data
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PRJEB58553
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