Article
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Human mutation - 1 Sept 2020
Hawley Megan H, Almontashiri Naif, Biesecker Leslie G, Berger Natalie, Chung Wendy K, Garcia John, Grebe Theresa A, Kelly Melissa A, Lebo Matthew S, Macaya Daniela, Mei Hui, Platt Julia, Richard Gabi, Ryan Ashley, Thomson Kate L, Vatta Matteo, Walsh Roddy, Ware James S, Wheeler Matthew, Zouk Hana, Mason-Suares Heather, Funke Birgit
Abstract excerpt
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenicity of variants with lower penetrance can be challenging. The vinculin (VCL) gene illustrates these challenges. Model organism data provide evidence that loss of...
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