MYBPC3: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) HGNC: 7551 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 22/02/2019 Evidence Summary: There is limited evidence that MYBPC3 is associated with ARVC. Screening of ARVC patient cohorts for MYBPC3 mutations has been performed in two studies (29709087, 27194543). In these studies, a total of 151 ARVC patients were investigated and three individuals were reported carrying MYBPC3 missense variants. However, the significance of these variants in the context of ARVC is unclear as they were either VUS (e.g. p.Arg238Cys) or MYBPC3 variant carriers were also double heterozygotes for variants in other genes associated with cardiomyopathies (29709087, 27194543). In one ARVC pedigree the identified MYBPC3 p.Phe305Profs variant did not segregate with ARVC in the family (28699631). A recent publication presented a single ARVC case with a missense variant (p.Glu1179Lys) in MYBPC3 (28843747). In summary, there is limited evidence to support this gene-disease association. There is no clear evidence that the identified MYBPC3 variants contribute to the ARVC phenotype and there is no known disease mechanism that would link MYBPC3 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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