MYOM1 was first reported in relation to hypertrophic cardiomyopathy (HCM) in humans in 2011 (Siegert et al, 2011, PMID 21256114). MYOM1 has been associated with hypertrophic cardiomyopathy (HCM) in 11 probands across 4 publications (Siegert et al, 2011, PMID 21256114; Cecconi M, et al., 2016, PMID: 27600940; Bottillo I, et al., 2016, PMID: 26656175; Guo X, et al., 2017, PMID: 28323875). A single missense variant, p.Val1490Ile, segregated in 2 affected family members with HCM and destabilized dimerization of the MYOM1 protein; however, variants in all 8 sarcomeric genes were not ruled out (Siegert et al, 2011, PMID 21256114). Nine additional missense variants, one intronic variant, one splice-site variant, and a synonymous variant are included in this curation. All but one received reduced scores either due to the presence of variants in other HCM genes, inconsistent phenotypes, or high allele frequencies in gnomAD (Cecconi M, et al., 2016, PMID: 27600940; Bottillo I, et al., 2016, PMID: 26656175; Guo X, et al., 2017, PMID: 28323875). The mechanism for disease is unknown.This gene-disease relationship is supported by an expression study (Schoenauer et al, 2011, PMID 21069531). This gene-disease pair was originally evaluated by the ClinGen Hypertrophic Cardiomyopathy Gene Curation Expert Panel on July 20th, 2017. It was reevaluated by the Hereditary Cardiovascular Disease Gene Curation Expert Panel on February 23rd, 2023. As a result of this reevaluation, the classification was changed from limited to disputed.
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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