Collaborator: ClinGen
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Abstract The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the genetics community with a framework to assess variant pathogenicity; however, these rules are not gene specific. Germline pathogenic variants in the CDH1 gene cause hereditary diffuse gastric cancer and lobular breast…
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Abstract The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide…
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ClinGen and Genetic Testing
Abstract On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are…
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The PTEN Gene ClinGen Expert Panel: A model for creating a framework for gene specific criteria using ACMG guidelines
The PTEN Gene ClinGen Expert Panel: A model for creating a framework for gene specific criteria using ACMG guidelines.