ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.841C>A (p.Arg281=)

dbSNP: rs371711564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551907 SCV000623626 likely benign Hypertrophic cardiomyopathy 2022-09-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610520 SCV000732043 uncertain significance not specified 2017-12-08 criteria provided, single submitter clinical testing The p.Arg281Arg variant in MYBPC3 has not been previously reported in individual s with cardiomyopathy and was absent from large population studies. This variant does not change an amino acid but computational tools predict a possible impact on splicing although their accuracy is unknown. Splice variants in MYBPC3 are a common cause of hypertrophic cardiomyopathy. In summary, the clinical significa nce of the p.Arg281Arg variant is uncertain. ACMG/AMP Criteria applied: PM2.
Color Diagnostics, LLC DBA Color Health RCV003532156 SCV004358764 uncertain significance Cardiomyopathy 2023-06-29 criteria provided, single submitter clinical testing This synonymous variant does not change the amino acid sequence of the MYBPC3 protein. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with unspecified cardiomyopathy (PMID: 30847666). This variant has not been identified 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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