MYPN was first reported in relation to autosomal dominant hypertrophic cardiomyopathy in 2001 (Bang et al., PMID: 11309420). Nine variants (8 missense, 1 nonsense) that have been reported in nine probands in two publications (PMIDs: 22286171, 20801532) are included in this curation; however, none of the variants were able to be scored given their frequencies in gnomAD and the lack of screening for variants in other sarcomeric HCM genes. The mechanism of pathogenicity is unknown. This gene-disease association is supported by expression studies and an animal model (PMIDs: 11309420, 22286171). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This gene-disease pair was originally evaluated by the HCM GCEP on 04/29/2020. It was reevaluated on 06/14/2023 by the HCVD GCEP. As a result of this reevaluation, the classification changed from limited to disputed due to the lack of genetic evidence.
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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