Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988541 | SCV001138296 | uncertain significance | Hypertrophic cardiomyopathy 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293107 | SCV001434095 | uncertain significance | Hypertrophic cardiomyopathy | criteria provided, single submitter | research | ||
All of Us Research Program, |
RCV001293107 | SCV004830698 | uncertain significance | Hypertrophic cardiomyopathy | 2024-09-23 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with leucine at codon 835 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 20624503, 20800588, 22112859, 22989827, 23711808, 27532257, 30606897; Al-shafai 2020, dissertation, Khalifa University). One of these individuals also carried a different pathogenic variant in the MYBPC3 gene that could explain the observed phenotype (PMID: 22112859, 22989827, 30606897). This variant has also been reported in an individual affected with dilated cardiomyopathy (PMID: 35284542). This variant has been identified in 14/280406 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |