2017
DOI: 10.1111/cge.12988
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Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

Abstract: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY ( GCK / HNF1A ) in a large cohort of Brazilian families, to repor… Show more

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Cited by 22 publications
(28 citation statements)
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“…However, near‐normal kinetics and protein thermal stability do not necessarily mean they are harmless. R250H mutation has been reported in another study and described as “likely pathogenic”. The R275H (c.824G>A) variant is registered as rs767565869 in the dbSNP147 database.…”
Section: Discussionmentioning
confidence: 99%
“…However, near‐normal kinetics and protein thermal stability do not necessarily mean they are harmless. R250H mutation has been reported in another study and described as “likely pathogenic”. The R275H (c.824G>A) variant is registered as rs767565869 in the dbSNP147 database.…”
Section: Discussionmentioning
confidence: 99%
“…To address these limitations, organizations are working to build and standardize multi-step protocols for variant classification such as the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP), who, in 2015, published a series of guidelines for the interpretation of germline genetic variants for genes causative of hereditary human disorders (Richards et al 2015 ). These guidelines have been adopted, refined, and tested in multiple institutions for several genetic diseases including cancer, Marfan Syndrome, and diabetes among others (Amendola et al 2016 ; Muino-Mosquera et al 2018 ; Richards et al 2015 ; Santana et al 2017 ; Sukhai et al 2016 ). Similarly, the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed a standardized classification scheme for variants occurring in genes associated with hereditary gastrointestinal tumors such as Lynch Syndrome (Thompson et al 2014 ).…”
Section: Challenges In Cancer Genomics Data Interpretationmentioning
confidence: 99%
“…Now although next-generation sequencing (NGS) is widely used in gene testing, it is challenging to identify the pathogenicity of the genetic variants.Currently, it is recommended that the standards and guidelines proposed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) should be helpful for interpreting the pathogenicity of genetic variants. 14 In this study, we screened the genetic ABCC8 variants using targeted sequencing in 543 Chinese with EOD, and the pathogenicity of the genetic variants was evaluated according to the standards of ACMG-AMP. Furthermore, the phenotypic features of the patients with ABCC8-MODY were investigated.…”
Section: Introductionmentioning
confidence: 99%