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 > 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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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study by Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

“…The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. …”
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Description of 22 new alpha-1 antitrypsin genetic variants by Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly

“…Among these 22 variants, seven were Null alleles and one with a M1 migration pattern (M1Cremeaux) was considered as deficient according to the clinical and biological data and to the American College of Medical Genetics and Genomics (ACMG) criteria. …”
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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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Novel and de novo mutations in pediatric refractory epilepsy by Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li

“…The pathogenicity of identified variants was evaluated in accordance with the American College of Medical Genetics and Genomics (ACMG) criteria. …”
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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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Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity by Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos

“…Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to American College of Medical Genetics and Genomics and the Association (ACMG) guidelines. …”
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Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population by Miao Huang, Xiyan Lu, Guoqing Dong, Jianxu Li, Chengcong Chen, Qiuxia Yu, Mingzhu Li, Yueyue Su

“…The pathogenicity assessment of gene mutations was performed based on the American College of Medical Genetics and Genomics (ACMG) classification guidelines, inheritance models, and published evidence.ResultsMutations in several target genes were identified in 14 of 15 patients (93.33%); these mutations were distributed in eight genes (DUOX2, DUOXA2, TPO, TG, TSHR, FOXE1, KDM6A, and POU1F1). …”
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Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients by Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thanh Van Ta, Thinh Huy Tran, Thinh Huy Tran, Huy-Hoang Nguyen, Huy-Hoang Nguyen

“…Multiplex ligation-dependent probe amplification was performed in one family to examine an exon deletion.Results: Seven variants of the LAMA2 (NM_000426) gene were identified and classified as pathogenic/likely pathogenic variants using American College of Medical Genetics and Genomics criteria. Two of these variants were not reported in the literature, including c.7156-5_7157delinsT and c.8974_8975insTGAT. …”
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A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family by Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan, Guohua Ji, Jing Bai, Feng Chen, Yong Liu, Wenjing Sun, Songbin Fu

“…The classification of variants was assessed according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB by Antonia Howaldt, MD, Sandrine Lenglez, BSc, Clara Velmans, MD, Anne Maria Schultheis, MD, Thomas Clahsen, PhD, Mario Matthaei, MD, Jürgen Kohlhase, MD, Christian Vokuhl, MD, Reinhard Büttner, MD, Christian Netzer, MD, Jean-Baptiste Demoulin, PhD, Claus Cursiefen, MD, PhD

“…The variants can both be classified as likely pathogenic regarding the American College of Medical Genetics and Genomics classification criteria. …”
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