MYH11 was first reported in relation to autosomal dominant congenital heart disease in 2017 (Pal et al., PMID: 28512736). At least four unique variants (missense, nonsense, splice-site, deletion) were reported in four individuals with CHD (PMID: 28512736, 32859249, 33084842), but only the splice-site variant was included in this curation. The rest were not scored due to presence of variants in other CHD-related genes or high frequencies on gnomAD v4. Of note, there are 4 CNVs encompassing MYH11 and several other genes reported in individuals with CHD (PMIDs: 22318994, 23979609). In summary, there is limited evidence supporting the relationship between MYH11 and autosomal dominant congenital heart disease. 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 Congenital Heart Disease GCEP on the meeting date October 15th, 2024 (SOP Version 11).
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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