Variant classification and interpretation

varian clasification and interpretationvarian clasification and interpretationAuthors: Dr Sobia Raza, Dr Leila Luheshi, Alison Hall, Dr Emma Baple, Prof Sian Ellard, Dominic McMullan.

This report, produced by PHG Foundation for the Association for Clinical Genomic Science (ACGS), summarises a recent meeting convened with the aim of achieving national consensus on the principles that should underpin the development of variant classification and interpretation guidelines for use within the UK clinical genomics community. Specifically under consideration was whether and how the American College of Medical Genetics and Genomics (ACMG) sequence variant guidelines should be adopted and implemented.

The interpretation and classification of sequence variants entails the collation and evaluation of various sources of evidence to determine the clinical significance of variants identified through diagnostic testing for a disease with a suspected underlying genetic cause. Together with other clinical information, the variant interpretation may be used to inform the clinical management of a patient and possibly their relatives.

The ability of  genetics laboratories to reach a consistent and accurate interpretation of a particular variant is paramount given the potential implications for patient management and safety…As the complexity of analysis increases, there is a particularly urgent need to revise the current ACGS interpretation guidelines to achieve greater consistency.

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