ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter)

dbSNP: rs730880604
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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 RCV002000071 SCV002229160 pathogenic Hypertrophic cardiomyopathy 2023-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1258*) 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: 1452999). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV003303496 SCV004001258 pathogenic Cardiovascular phenotype 2023-05-03 criteria provided, single submitter clinical testing The p.L1258* pathogenic mutation (also known as c.3773T>A), located in coding exon 33 of the MYBPC3 gene, results from a T to A substitution at nucleotide position 3773. This changes the amino acid from a leucine to a stop codon within coding exon 33. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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