A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency by Sofia Vatsiou, Maria Zamanakou, Gedeon Loules, Fotis Psarros, Faidra Parsopoulou, Dorottya Csuka, Anna Valerieva, Maria Staevska, Grzegorz Porebski, Krystyna Obtulowicz, Markus Magerl, Marcus Maurer, Matthaios Speletas, Henriette Farkas, Anastasios E. Germenis

“…According to the American College of Medical Genetics and Genomics 2015 guidelines the c.-22-155G > T was curated as pathogenic. …”
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Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults—The Value of Reevaluating and Expanding Gene Panel Analyses by Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson

“…In 5 (50%) families we identified a genetic variant classified as pathogenic or likely pathogenic, in accordance with the American College of Medical Genetics and Genomics (ACMG) criteria, in <i>MYH7</i> (<i>n</i> = 2), <i>RBM20</i>, <i>ALPK3</i>, and <i>PGM1</i>, respectively, and genetic variants of unknown significance (VUS) segregating with the disease in an additional 3 (30%) families, in <i>MYBPC3</i>, <i>ABCC9</i>, and <i>FLNC</i>, respectively. …”
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Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy by Leonie M. Kurzlechner, Edward G. Jones, Amy M. Berkman, Hanna J. Tadros, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Jeffrey J. Kim, Andrew P. Landstrom

“…We sought to use amino acid-level signal-to-noise (S:N) analysis to establish pathogenic hotspots in sarcomeric HCM-associated genes as well as to refine the 2015 American College of Medical Genetics (ACMG) criteria to predict incidental variant pathogenicity. …”
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A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review by Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang

“…This variant was novel, not included in the Human Gene Mutation and Genome Aggregation Database, and likely pathogenic according to the American College of Medical Genetics and Genomics, causing earlier termination of amino acid translation. …”
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Analysis of children with familial short stature: who should be indicated for genetic testing? by Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova

“…The results were evaluated by American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy by Tayyaba Afsar, Tayyaba Afsar, Xiaoyun Huang, Abid Ali Shah, Safdar Abbas, Shazia Bano, Arif Mahmood, Junjian Hu, Suhail Razak, Suhail Razak, Muhammad Umair, Muhammad Umair

“…Different bioinformatics prediction tools and American College of Medical Genetics guidelines were used to verify the identified variant. …”
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The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma by Yubo Ding, Jingwei Yao, Meiling Wen, Xiong Liu, Jialu Huang, Minghui Zhang, Yu Zhang, Yufan Lv, Zhuoyi Xie, JianHong Zuo

“…Screening of pathogenic and possible pathogenic genes was performed using American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene <i>RAD51C</i> by Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro

“…Finally, we performed a tentative interpretation of the variants according to an ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based classification scheme, classifying 16 variants as likely pathogenic. …”
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group

“…Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. …”
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Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital by Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones, Eulália Sakano

“…A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. …”
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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies by Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L Harteveld, Celeste Bento, Joanne Traeger-Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim-Fikri, Bin Alwi Zilfalil, Andrea C Kakouri, ClinGen Hemoglobinopathy Variant Curation Expert Panel, Marina Kleanthous, Petros Kountouris

“…With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines is challenging and computational evidence can provide valuable input about their functional annotation. …”
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Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations by Limin Huang, Liyan Li, Sheng Lin, Juanjuan Chen, Kun Li, Dongmei Fan, Wangjie Jin, Yihong Li, Xu Yang, Yufeng Xiong, Fenxia Li, Xuexi Yang, Ming Li, Qiang Li

“…The pathogenicity of the causative mutations was classified following the American College of Medical Genetics and Genomics guidelines. Results The mutation detection rate was 94.74% (72/76) using NGS. …”
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Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient by Yingchen Wang, Qing Chen, Feng Zhang, Xi Yang, Lingyue Shang, Shuting Ren, Yuncheng Pan, Zixue Zhou, Guoqing Li, Yunzheng Fang, Li Jin, Yanhua Wu, Xiaojin Zhang

“…According to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines, the novel variant is categorized as pathogenic. …”
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Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome by Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-hong Duan, Dan Lu, Yu-Mei Wu

“…In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. …”
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Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants by Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang

“…Additionally, our study underscores the challenges in classifying partial loss-of-function variants in classical Mendelian disease genes according to the American College of Medical Genetics and Genomics (ACMG)’s variant classification guidelines.…”
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<i>CDH1</i> Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma by Jihenne Ben Aissa-Haj, Maria Kabbage, Houcemeddine Othmen, Patrick Saulnier, Haifa Tounsi Kettiti, Amira Jaballah-Gabteni, Azer Ferah, Mouna Medhioub, Amal Khsiba, Moufida Mahmoudi, Afifa Maaloul, Sonia Ben Nasr, Emna Chelbi, Sonia Abdelhak, M. Samir Boubaker, Mohamed Mousaddak Azzouz, Etienne Rouleau

“…With ACMG (American College of Medical Genetics and Genomics) classification and the evidence available, we thus suggest a revision of its status to likely pathogenic. …”
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Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review by Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zhou

“…Whole-exome sequencing (WES) was performed on the patient using next-generation sequencing (NGS), the variants were confirmed by Sanger sequencing and the pathogenicity of the variants was classified according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. …”
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Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency by Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu

“…Both variants were classified as pathogenic variants according to the American College of Medical Genetics and Genomics/ Association for Molecular Pathology guidelines. …”
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Genetic screening in a Brazilian cohort with inborn errors of immunity by Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flavia Amendola Anisio de Carvalho, Bárbara Carvalho Santos dos Reis, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos

“…Germline genetic variants in IEI-related genes were prioritized using a computational framework considering their molecular consequence in coding regions; minor allele frequency ≤ 0.01; pathogenicity classification based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines gathered from the VarSome clinical database; and IEI-related phenotype using the Franklin tool. …”
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Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational ana... by Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Al-Shehri, Mohammad Athar, Mohammad Athar, Ahmed Awan, Mariam Khalili, Hadiah Bassam Al Mahadi, Gehan Hejazy, Omar I. Saadah, Sameer Eida Al-Harthi, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli, Eman Alefishat, Eman Alefishat, Eman Alefishat, Zuhier Awan

“…Interestingly, this variant is classified as “likely pathogenic" (PP5) based on the variant interpretation guidelines of the American College of Medical Genetics (ACMG). Computational functional characterization suggested that this variant could destabilize the native PCSK9 protein and alter its secondary and tertiary structural features. …”
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