MYH7: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) HGNC: 7577 http://purl.obolibrary.org/obo/MONDO_0016587 Mode of Inheritance: Autosomal dominant inheritance (HP:0000006) Expert Panel: Arrhythmogenic Right Ventricular Cardiomyopathy SOP: Gene Clinical Validity Standard Operating Procedures (SOP), Version 6
Calculated Classification (date) Limited 22/03/2019 Evidence Summary: There is limited evidence that MYH7 is associated with ARVC. Screening of ARVC patient cohorts for MYH7 mutations has been performed in four studies (29709087, 27194543, 29253866 and 30385303). In these studies, a total of 245 ARVC patients were investigated and eight individuals were reported carrying MYH7 variants (a deletion and seven missense). However, the significance of these variants in the context of ARVC is unclear as they were either VUS (e.g. p.Arg1846Cys) or previously reported as causative in hypertrophic cardiomyopathy (e.g. p.Lys847del). In one ARVC pedigree the identified MYH7 p.Met877Ile variant did not segregate with ARVC in the family (28699631). In summary, there is limited evidence to support this gene-disease association. There is no clear evidence that the identified MYH7 variants contribute to the ARVC phenotype and there is no known disease mechanism that would link MYH7 with 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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