ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs)

dbSNP: rs878853831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229377 SCV000284215 pathogenic Hypertrophic cardiomyopathy 2023-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu545Valfs*20) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 237424). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000620784 SCV000737348 pathogenic Cardiovascular phenotype 2016-04-27 criteria provided, single submitter clinical testing The c.1633_1640delCTGGAGGT pathogenic mutation, located in coding exon 18 of the MYBPC3 gene, results from a deletion of 8 nucleotides between positions 1633 and 1640, causing a translational frameshift with a predicted alternate stop codon (p.L545Vfs*20). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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