ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1790+5G>A

dbSNP: rs727504489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155623 SCV000205331 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 1790+5G>A v ariant in MYBPC3 has not been reported in the literature nor previously identifi ed by our laboratory. This variant has also not been identified in large Europea n American and African American populations by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS), though it may be present in other populati ons. This variant is located in the 5' splice region. Computational tools sugges t a possible impact to splicing, though this information is not predictive enoug h to determine pathogenicity. Additional information is needed to fully assess t he clinical significance of this variant.
Invitae RCV002514996 SCV003439735 uncertain significance Hypertrophic cardiomyopathy 2023-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27841901, 28679633). ClinVar contains an entry for this variant (Variation ID: 178851). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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