<i>CDH1</i> Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer by Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, Luigi Scietti, Federico Forneris, Lina M. Moreno Uribe, Andrew C. Lidral, Peter A. Jezewski, John B. Mulliken, Jeffrey C. Murray, Michael F. Buckley, Timothy C. Cox, Tony Roscioli

“…This study collates the phenotype and molecular data for available <i>CDH1</i> variants that have been classified, using the American College of Medical Genetics and Genomics criteria, as at least ‘likely pathogenic’, and correlates their molecular and structural characteristics to phenotype. …”
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Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort by Liana K. Billings, Zhuqing Shi, W. Kyle Resurreccion, Chi‐Hsiung Wang, Jun Wei, Toni I. Pollin, Miriam S. Udler, Jianfeng Xu

“…Pathogenic/likely pathogenic (P/LP) mutations in 14 reported and 3 possible MODY genes were annotated using American College of Medical Genetics criteria. Evidence for being a high‐penetrant MODY gene used two statistical criteria: frequency of aggregate P/LP mutations in each gene are (1) significantly more common in participants with a diagnosis of diabetes than without using the SKAT‐O (p < .05) and (2) lower than the maximum credible frequency in the general population. …”
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Identification of the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria by YANG Xueting, GUO Kexin, SUN Yang, WANG Rongrong, MA Donglai, ZHANG Xue

“…According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the nonsense variant, c.3546T＞G in ADAR, was categorized as a pathogenic variant (PVS1+PS2+PM2+PP3+PP4) and the missense variants, c.2770T＞G and c.3116A＞C in ADAR, were categorized as pathogenic variants (PS2+PM1+PM2+PP3+PP4) and (PS1+PS2+PM1+PM2+PP3+PP4), respectively. …”
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Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study by Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet, Laëtitia Lambert

“…The classification was based on the 2020 American College of Medical Genetics (ACMG) criteria. Results Of the 1641 array-CGH analyzed, 259 (15.7%) showed at least one CNV initially reported as of uncertain significance. …”
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Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome by Zhening Pu, Haoliang Sun, Junjie Du, Yue Cheng, Keshuai He, Buqing Ni, Weidong Gu, Juncheng Dai, Yongfeng Shao

“…Then, we performed pedigree analysis under different inheritance patterns according to American College of Medical Genetics guidelines. Results were confirmed by Sanger sequencing. …”
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening by Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai, Tuan-Anh Nguyen

“…The carrier screening panel was designed based on the American College of Medical Genetics and Genomics (ACMG)-recommended genes and suggestions from 104 clinical experts in Vietnam. …”
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Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data by Apurba Shil, Liron Levin, Hava Golan, Gal Meiri, Analya Michaelovski, Yair Sadaka, Adi Aran, Ilan Dinstein, Idan Menashe

“…According to the American College of Medical Genetics (ACMG) guidelines, the pathogenicity of variants was evaluated by the InterVar and TAPES tools. …”
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A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy by Wei Li, Ziwei Wang, Yan Sun, Zhuoshi Wang, Jinyue Bai, Bo Xing, Xiao Sun, Lusheng Wang, Jiankang Li, Wei He

“…Potential candidate causative variants were verified with reference to guidelines and standards from the American College of Medical Genetics and Genomics. Results We identified a novel heterozygous missense mutation (c.1A>G, p.M1V) localized in the start codon of the TSPAN12 and was detected as a potentially disease‐causing variant for the proband. …”
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Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma by Mengyang Li, Xueqin Hu, Xueli Wu, Na Zhao, Yuanyuan Lian, Meijiao Ma, Huiping Li, Xunlun Sheng

“…According to the American College of Medical Genetics and Genomics (ACMG) guidelines for the CNV interpretation, the deletion of this segment was a pathogenic variant. …”
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels by Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman

“…Abstract Background The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. …”
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Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations by Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay

“…Variant interpretation was made in accordance with the American College of Medical Genetics 2015 recommendations. Results: Four patients carried a heterozygous mutation in TSC1, while the remaining seven carried mutations in TSC2. …”
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Dissecting Generalizability and Actionability of Disease-Associated Genes From 20 Worldwide Ethnolinguistic Cultural Groups by Emile R. Chimusa, Emile R. Chimusa, Shatha Alosaimi, Christian D. Bope, Christian D. Bope, Christian D. Bope, Christian D. Bope

“…Findings resulting from whole-genome sequencing (WGS) have markedly increased due to the massive evolvement of sequencing methods and have led to further investigations such as clinical actionability of genes, as documented by the American College of Medical Genetics and Genomics (ACMG). ACMG’s actionable genes (ACGs) may not necessarily be clinically actionable across all populations worldwide. …”
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Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us? by Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova

“…All children were examined using next-generation sequencing methods, and the genetic variants were subsequently evaluated by American College of Medical Genetics standards and guidelines.ResultsThe age of children at enrollment into the study was 11 years (median, IQR 9-14 years), their height prior to GH treatment was -3.0 SD (-3.6 to -2.8 SD), IGF-1 concentration -1.4 SD (-2.0 to -1.1 SD), and maximal stimulated GH 6.3 ug/L (4.8-7.6 ug/L). …”
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Diagnosis and treatment of familial male precocious puberty caused by LHCGR gene mutation: two case reports and literature review by HE Qinyu, WANG Wei, CHEN Lifen, ZHANG Xuelei, DONG Zhiya

“…According to the guidelines of The American College of Medical Genetics and Genomics(ACMG), genovariation of LHCGR gene was assessed as possible pathogenic variation, so it was clear that central precocious puberty was caused by LHCGR gene mutation. …”
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Spectrum of gene mutations identified by targeted next‐generation sequencing in Chinese leukemia patients by Hongxia Yao, Congming Wu, Yueqing Chen, Li Guo, Wenting Chen, Yanping Pan, Xiangjun Fu, Guyun Wang, Yipeng Ding

“…Pathogenic variants were assessed based on the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease by Xu SY, Li HJ, Li S, Ren QQ, Liang JL, Li CX

“…We conducted this review to collect symptomatic carriers of heterozygous HTRA1 gene variants reported as of 2022, analyzed all pathogenicity according to American College of Medical Genetics and Genomics (ACMG) variant classification, and summarized the cases with pathogenic and likely pathogenic HTRA1 variants gender characteristics, age of onset, geographical distribution, initial symptoms, clinical manifestations, imaging signs, HTRA1 gene variant information and to speculate its underlying pathogenic mechanisms. …”
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Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction by Kinga Grebur, Balázs Mester, Bálint András Fekete, Bálint András Fekete, Anna Réka Kiss, Zsófia Gregor, Márton Horváth, Kristóf Farkas-Sütő, Katalin Csonka, Csaba Bödör, Béla Merkely, Hajnalka Vágó, Andrea Szűcs

“…The results were evaluated using the criteria of the American College of Medical Genetics and Genomics. Medical data suggesting a higher risk of cardiovascular complications were considered “red flags”.ResultsOf the LVNC population, 24% carried pathogenic or likely pathogenic (P) mutations; 56% carried variants of uncertain significance (VUS); and 20% were free from cardiomyopathy-related mutations. …”
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Mutation Analysis of Thin Basement Membrane Nephropathy by Yosuke Hirabayashi, Kan Katayama, Mutsuki Mori, Hiroshi Matsuo, Mika Fujimoto, Kensuke Joh, Tomohiro Murata, Masaaki Ito, Kaoru Dohi

“…The diagnostic rate of “likely pathogenic” or “pathogenic” under the American College of Medical Genetics and Genomics guidelines was 53.8% (7 out of 13 patients). …”
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Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency by Rosa Sonja Alesci, Carola Hecking, Benjamin Racké, Detlev Janssen, Carl-Erik Dempfle

“…BackgroundThe American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders. …”
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The Relationship between Maternal Antibodies to Fetal Brain and Prenatal Stress Exposure in Autism Spectrum Disorder by Amy N. Costa, Bradley J. Ferguson, Emily Hawkins, Adriana Coman, Joseph Schauer, Alex Ramirez-Celis, Patrick M. Hecht, Danielle Bruce, Michael Tilley, Zohreh Talebizadeh, Judy Van de Water, David Q. Beversdorf

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