ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)

dbSNP: rs1565622703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000768481 SCV000886772 likely pathogenic Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000768481 SCV004848094 pathogenic Hypertrophic cardiomyopathy 2017-09-07 criteria provided, single submitter clinical testing The p.Thr1184fs variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1184 and leads to a premature termination codon 24 amino acids downstream. This alteration is predicted to lead to a truncated or absent protein. Nonsense and other MYBPC3 variants resulting in a heterozygous loss of function are strongly associated with HCM. In summary, this variant meets criteria to be classified as pathogenic for HCM in an autosomal dominant manner based upon the predicted impact on the protein and absence from control databases.

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