There is limited evidence that TJP1 is associated with ARVC. Published in 2018 (30354300), there was one family meeting 2010 TFC that was found to have a variant in TJP1: p.Y669C. Targeted sequencing of an additional 40 ACM patients found another patient with a variant in TJP1 p.R265W. An additional 43 Dutch/German patients were sequenced and in 2 patients with DCM and VT, TJP1 variants were found but one had a pathogenic DSP variant. Of these cases, two probands clearly met 2010 TFC. One proband had histology consistent with ARVC. Functional characterization in this paper showed that it interacts with the gap junction, but not more specific phenotype. Therefore, limited experimental studies, and lack of proof of segregation in families leaves TJP1 with only limited evidence for ARVC.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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