ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)

dbSNP: rs2495749637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002431100 SCV002741903 pathogenic Cardiovascular phenotype 2018-11-26 criteria provided, single submitter clinical testing The c.2500_2501delCG pathogenic mutation, located in coding exon 25 of the MYBPC3 gene, results from a deletion of two nucleotides at nucleotide positions 2500 to 2501, causing a translational frameshift with a predicted alternate stop codon (p.R834Afs*49). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101893 SCV003198015 pathogenic Hypertrophic cardiomyopathy 2024-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg834Alafs*49) 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: 1792248). For these reasons, this variant has been classified as Pathogenic.

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