RBM20 was first reported in relation to autosomal dominant HCM in 2021 (Dai et al. PMID: 34333030). At least 13 variants (e.g. missense, splice acceptor, frameshift) have been reported in humans. Evidence supporting this gene-disease relationship includes only case-level data. Variants in this gene have been reported in at least 13 probands in 1 publication (PMID: 34333030). Additionally, there are families described in the literature with no segregation of RBM20 variants with HCM phenotype; these publications were not scored. There are no publications showing a clear segregation of RBM20 variants with HCM in family members. The mechanism for disease is unknown. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel on October 26, 2023 (SOP Version 9).
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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