Abstract Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which the patient underwent genetic testing, but are of potential value in patient care. In this study, we evaluated 81 American College of Medical Genetics (ACMG) medically actionable genes in 443 patients with various neurological disorders. The variants identified were classified and reported following the 2015 ACMG Standards and Guidelines for the interpretation of sequence variants and the ACMG recommendations for reporting secondary findings (v3.2). We detected a total of 17 variants in 17 patients across 9 different genes as secondary findings. Seven heterozygous variants were found in BRCA1, MSH2 , and PALB2 which are part of the cancer phenotype category. Nine heterozygous variants were found in MYH7 , TTN , LDLR , DSC2 , and DSP which are part of the cardiovascular phenotype category. Finally, one heterozygous variant was found in TTR which is part of the miscellaneous phenotype category. Thirteen of above mentioned variants were classified as known pathogenic and four as expected pathogenic. The information collected in our study may lead to the prevention of severe morbidity and mortality and provides additional insight into the genetic background of the Serbian population.

Marija Branković

Heonjong Han

Milena Janković

Ana Marjanović

Nikola Andrejic

Ilija Gunjić

Vanja Virić

Aleksa Palibrk

Hane Lee

Stojan Peric

Annals of Human Genetics

人类遗传学年鉴出版与人类遗传学或科学原理和技术在人类遗传任何方面的应用直接相关的材料。还将考虑描述可能与人类遗传学相关的其他物种的工作的论文。数学模型应尽可能包括数据应用示例。欢迎作者提交支持信息，例如数据集或其他图形或表格，这些信息不会在期刊的印刷版中发布，但可通过在线版本并存储在网站上。

The Annals of Human Genetics publishes research materials directly related to human genetics and the application of scientific principles and techniques in any aspect of human genetics. We also welcome papers describing work related to other species that may be relevant to human genetics. All mathematical models should include examples of data applications whenever possible. Authors are encouraged to submit supporting information, such as datasets or other graphics and tables, which will not be published in the print version of the journal but will be made available in the online version and stored on our website.

《Annals of Human Genetics》期刊出版与人类遗传学及其在各个领域的应用相关的研究材料。我们也欢迎与其他物种相关的研究论文，这些研究可能对人类遗传学有启发。所有数学模型应尽量包含数据应用的实例。我们鼓励作者提交支持性信息，例如数据集、图形或表格，这些信息将不会在期刊的印刷版中发布，但会在在线版本中提供，并存储在我们的网站上。

Category	Quartile
生物学	4
生物学, 遗传学	4

Secondary findings in 443 exome sequencing data

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4