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• W3090609204 abstract "Abstract In clinical exome/genome sequencing, the American College of Medical Genetics and Genomics (ACMG) recommends reporting of secondary findings unrelated to a patient's phenotype when pathogenic single‐nucleotide variants (SNVs) are observed in one of 59 genes associated with a life‐threatening, medically actionable condition. Little is known about the incidence and sensitivity of chromosomal microarray analysis (CMA) for detection of pathogenic copy number variants (CNVs) comprising medically‐actionable genes. Clinical CMA has been performed on 8865 individuals referred for molecular cytogenetic testing. We retrospectively reviewed the CMA results to identify patients with CNVs comprising genes included in the 59‐ACMG list of secondary findings. We evaluated the clinical significance of these CNVs in respect to pathogenicity, phenotypic manifestations, and heritability. We identified 23 patients (0.26%) with relevant CNV either deletions comprising the entire gene or intragenic alterations involving one or more secondary findings genes. A number of patients and/or their family members with pathogenic CNVs manifest or expected to develop an anticipated clinical phenotype and would benefit from preventive management similar to the patients with pathogenic SNVs. To improve patients' care standardization should apply to reporting of both sequencing and CNVs obtained via clinical genome‐wide analysis, including chromosomal microarray and exome/genome sequencing." @default.
• W3090609204 created "2020-10-08" @default.
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• W3090609204 date "2020-10-10" @default.
• W3090609204 modified "2023-10-12" @default.
• W3090609204 title "Copy number alterations involving 59 <scp>ACMG</scp>‐recommended secondary findings genes" @default.
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• W3090609204 doi "https://doi.org/10.1111/cge.13852" @default.
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