ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu)

gnomAD frequency: 0.00002  dbSNP: rs527305885
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Total submissions: 3
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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, Sidra Medicine RCV001293107 SCV001434095 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
All of Us Research Program, National Institutes of Health 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.

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