There is limited evidence that MYL3 is associated with ARVC. Screening of ARVC patient cohorts for MYL3 mutations has been performed in two studies (29709087, 22421524). In first study (29709087) 137 ARVC patients were investigated for putative pathogenic variants. A missense variant causing the aminoacid substitution Arg154His was identified in one patient. This previously report variant is classified as likely pathogenic according to current ACMG criteria and has been demonstrate in vitro to disturb the binding of this protein to myosin. However, this variant has not been linked to ARVC phenotype and no segregation data were available. In the second study (22421524) 14 ARVC patients were investigated but no MYL3 variants were reported. There is no clear evidence that the identified MYL3 contribute to the ARVC phenotype and there is no known disease mechanism that would link MYL3 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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