"From Report to Reality: Understanding Variant Summaries and Reassessing Assigned Classifications”

Ophir Gilad, MD - Communications Committee member

If you missed our latest webinar, or would like to revisit the discussion, the full session is now available on-demand for CGA-IGC members. (Not yet a member? You can join here).

This webinar featured Maegan E. Roberts, MS, CGC, Assistant Professor

at The Ohio State University, who provided a practical guide to understanding variant summaries and reassessing assigned variant classifications.

Ms. Roberts began by reviewing different types of splice site variants and the distinction between qualitative and quantitative RNA assays, highlighting how these approaches can contribute to our understanding of variant function. She then discussed computational models used in variant classification, including protein-based and splicing-based models, and how these tools can inform the interpretation of challenging variants.

She illustrated these concepts through cases that ultimately led to the reinterpretation of a variants of uncertain significance. She provided a step-by-step approach to evaluating these cases and shared practical guidance on the questions clinicians should consider asking genetic laboratories when seeking additional information about a variant.

Ms. Roberts then discussed how clinical data can contribute to variant reclassification and reviewed when and how ClinVar can be used in the interpretation of true missense variants. She concluded by highlighting important documentation considerations when ordering genetic testing, emphasizing how detailed clinical information can help laboratories more accurately classify variants.

This webinar offered practical strategies for clinicians navigating challenging variant classifications, with a particular focus on how laboratory data, computational tools, and clinical information can come together to improve variant interpretation.

Many thanks to Ms. Roberts for sharing her expertise and practical insights, and to everyone who joined the discussion. We look forward to seeing you at the next CGA-IGC webinar!

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Our webinars are a valuable member benefit, and we encourage you to sign up as a member so you can join the live webinars and access our earlier webinar series on demand!

You might also like to explore our podcasts. The CGA-IGC Research Collaboration series or others from the CGA-IGC Podcast Series (Seasons 3, 4, 5, 6, 7 & 8) presented by the CGA-IGC Education Committee. Or, explore our Expert Approach to Hereditary Gastrointestinal Cancers podcast series (Seasons 1 and 2).

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