Portal de Periódicos da CAPES

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2016; Elsevier BV; Volume: 99; Issue: 1 Linguagem: Inglês

10.1016/j.ajhg.2016.06.001

1537-6605

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljević, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm,

Genomics and Rare Diseases

(The American Journal of Human Genetics 98, 1067–1076; June 2, 2016) On page 1072 in the originally published version of this article, PS2 was a typo and should have read PS3 in the following sentence: “The other most common examples of modified strength included the following: PVS1 (a predicted null variant in a gene where LOF is a known mechanism of disease) was downgraded from very strong four times, PS2 (well-established functional studies show a deleterious effect) was downgraded three times, and BS1 (MAF is too high for the disorder) was downgraded three times.” The error has been corrected online, and the authors apologize for the oversight. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumAmendola et al.The American Journal of Human GeneticsMay 12, 2016In BriefEvaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published guidelines for the assessment of variants in genes associated with Mendelian diseases. Nine molecular diagnostic laboratories involved in the Clinical Sequencing Exploratory Research (CSER) consortium piloted these guidelines on 99 variants spanning all categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign). Full-Text PDF Open Archive