ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs)

dbSNP: rs2142849399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987807 SCV002222776 pathogenic Hypertrophic cardiomyopathy 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1236Aspfs*5) 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 has not been reported in the literature in individuals affected with MYBPC3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1446713).
Ambry Genetics RCV002352637 SCV002624135 pathogenic Cardiovascular phenotype 2018-11-30 criteria provided, single submitter clinical testing The c.3702_3703delAG pathogenic mutation, located in coding exon 33 of the MYBPC3 gene, results from a deletion of two nucleotides at nucleotide positions 3702 to 3703, causing a translational frameshift with a predicted alternate stop codon (p.L1236Dfs*5). 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.

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