Expanding ACMG variant classification guidelines into a general framework by Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

“…Abstract Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. …”
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Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families by Yixuan Cao, Xin Guan, Shan Li, Nan Wu, Xiumin Chen, Tao Yang, Bo Yang, Xiuli Zhao

“…Pathogenicity was assessed by conservation analysis, 3D protein modeling and in silico prediction, and was confirmed according to American College of Medical Genetics and Genomics. Results Three novel SE(M)D‐related variants c.1090dupG, c.7168 T > G, and c.2947G > C in ACAN, and one reported variant c.712C > T in PAPSS2 were identified. …”
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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 by Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

“…The variants were interpreted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss by Sloane Clay, Adele Evans, Regina Zambrano, David Otohinoyi, Chindo Hicks, Fern Tsien

“…The preliminary analysis followed the recommendations outlined by the American College of Medical Genetics and Association for Molecular Pathology (ACMG-AMP) in 2015 and 2019. …”
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Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci by Abdulrahman H. Al Anazi, Ahmed S. Ammar, Mahmoud Al-Hajj, Cyril Cyrus, Danah Aljaafari, Iname Khoda, Ahmed K. Abdelfatah, Abdullah A. Alsulaiman, Firas Alanazi, Rawan Alanazi, Divya Gandla, Hetal Lad, Samar Barayan, Brendan J. Keating, Amein K. Al-Ali

“…We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. …”
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Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China by Yinfeng Liu, Jie Zheng, Yue Xu, Ji Lv, Zizheng Wu, Kai Feng, Jiani Liu, Weitao Yan, Liguang Wei, Jiangman Zhao, Lisha Jiang, Meng Han

“…Comprehensive genomic profiling was performed, categorizing identified rare variants according to the American College of Medical Genetics (ACMG) guidelines. In silico protein modeling was used to analyze potentially pathogenic variants’ impact on protein structure and function.Results: We detected 421 rare variants across patients. …”
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder by Olivia J. Veatch, Merlin G. Butler, Sarah H. Elsea, Beth A. Malow, James S. Sutcliffe, Jason H. Moore

“…Starting with a list of all candidate genes implicated in all manifestations of ASD (i.e., idiopathic and syndromic), this pipeline uses databases that represent multiple lines of evidence to identify genes: (1) expressed in the human brain, (2) involved in ASD-relevant biological processes and resulting in analogous phenotypes in mice, (3) whose products are targeted by approved pharmaceutical compounds or possessing pharmacogenetic variation and (4) whose products directly interact with those of genes with variants recommended to be tested for by the American College of Medical Genetics (ACMG). Compared with 1000 gene sets, each with a random selection of human protein coding genes, more genes in the ASD set were annotated for each category evaluated (<i>p</i> ≤ 1.99 × 10⁻²). …”
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Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistan... by Tohru Yorifuji, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Shinji Higuchi, Jun Mori, Masaru Kato, Toru Takahashi, Tokuko Okuda, Takane Aoyama

“…Pathogenic/likely pathogenic variants were listed according to the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. …”
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High-flow arteriovenous fistula in X-linked Alport syndrome: a case report by Daisuke Takahashi, Kan Katayama, Yoshinobu Iyoda, Ayumi Fukumori, Kayo Tsujimoto, Masahiro Yamawaki, Fumika Tanaka, Ryosuke Saiki, Keiko Oda, Yasuo Suzuki, Tomohiro Murata, Yoshinaga Okugawa, Kaoru Dohi

“…COL4A5 c.2980G &gt; T was considered “pathogenic” according to the American College of Medical Genetics and Genomics guidelines and in vitro experiments. …”
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Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7 by Cong Zhou, Cong Zhou, Hongmei Zhu, Hongmei Zhu, Qinqin Xiang, Qinqin Xiang, Jingqun Mai, Jingqun Mai, Xihan Wang, Xihan Wang, Jing Wang, Jing Wang, Shanling Liu, Shanling Liu

“…The DYRK1A variant is classified as pathogenic according to the criteria of the American College of Medical Genetics and Genomics.ConclusionsThe findings of this study augment the data regarding the pathogenic variants of DYRK1A and provide important information for molecular diagnosis.…”
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Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease by Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun

“…The variants were assessed by pathogenic and conservational property prediction analysis and interpreted according to the American College of Medical Genetics and Genomics. Results Nine of the 12 pedigrees were identified the disease causing variants. …”
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<i>GJB</i>2 and <i>GJB</i>6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort by Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón

“…They were manually curated and classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel. …”
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Cancer carrier screening in the general population using whole‐genome sequencing by Ya‐Sian Chang, Dy‐San Chao, Chin‐Chun Chung, Yu‐Pao Chou, Chieh‐Min Chang, Chia‐Li Lin, Hou‐Wei Chu, Hon‐Da Chen, Ting‐Yuan Liu, Yu‐Hsuan Juan, Shun‐Jen Chang, Jan‐Gowth Chang

“…There are 1.54% (23/1491) of actionable cancer genes in American College of Medical Genetics and Genomics (ACMG), and the germline mutation rate of 275 cancer‐related genes is 7.2% (9/125) in cancer patients including 4.0% (5/125) of actionable cancer genes in ACMG. …”
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Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome by Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li

“…According to the American College of Medical Genetics and Genomics, the heterozygous variation NM_001371623.1: c.877del (p. …”
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Genotype‐Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy by Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Jizheng Wang, Lei Song, Jielin Pu

“…Pathogenicity of the detected variants was determined according to their prevalence and American College of Medical Genetics and Genomics recommendations. …”
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More autosomal dominant SPG18 cases than recessive? The first AD‐SPG18 pedigree in Chinese and literature review by Shuai Chen, Jin‐Long Zou, Shuang He, Wei Li, Jie‐Wen Zhang, Shu‐Jian Li

“…This mutation was cosegregated with the phenotype in the family and was classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome by Simone Grassi, Oscar Campuzano, Mònica Coll, Francesca Cazzato, Anna Iglesias, Francesco Ausania, Francesca Scarnicci, Georgia Sarquella-Brugada, Josep Brugada, Vincenzo Arena, Antonio Oliva, Ramon Brugada

“…Molecular autopsy revealed an intronic variant in the <i>KCNQ1</i> gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the <i>KNCQ1</i> variant. …”
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Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients by Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, Tássia Tonon, Maria Teresinha de Oliveira Cardoso, Romina Soledad Heredia, Maria Teresa Alves da Silva Rosa, Bárbara Cátia Martins, Monique Oliveira Poubel, Luiz Carlos Santana da Silva, François Maillot, Ida Vanessa Doederlein Schwartz

“…One novel variant, c.524C>G (p.Pro175Arg), was found in one allele and was predicted as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG) criteria. …”
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The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk by Yong Yang, Guoying Zhang, Chen Hu, Wei Luo, Haiyang Jiang, Shaoyou Liu, Hong Yang

“…Variants were classified into pathogenic, likely pathogenic and non-pathogenic categories based on American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation by Zhengxia Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, Wei Qin

“…According to the classification system of the American College of Medical Genetics and Genomics, the mutated gene in INVS is strongly pathogenic (PVS1+PM2+PP3+PP5). …”
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