Addendum to: Genetics in Medicine 13: 597–605 (2011); https://doi.org/10.1097/GIM.0b013e31821d69b8, published online 16 May 2011
This document was reaffirmed by the ACMG Board of Directors as of 25 June 2018 with the following addendum:
We suggest the following considerations in reaffirming this document:
To use the phrase “pathogenic variant” rather than the word “mutation” in discussing pathogenic variants related to autosomal dominant early-onset Alzheimer disease. This would be consistent with current ACMG/AMP Guidelines for Variant Interpretation and Reporting1.
Because this document no longer meets the criteria for an evidence-based practice guideline by either the American College of Medical Genetics and Genomics (ACMG) or National Society of Genetic Counselors (NSGC), NSGC reclassified this document as a Practice Resource in 2016, and ACMG is also classifying it as a Practice Resource as of this reaffirmation.
Richards S, Aziz N, Bale, S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–423. https://www.nature.com/articles/gim201530. Accessed 14 June 2019.
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Goldman, J.S., Hahn, S.E., Catania, J.W. et al. ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 21, 2404 (2019). https://doi.org/10.1038/s41436-019-0559-1