ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2739del (p.Ser914fs)

dbSNP: rs730880660
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158377 SCV000208312 likely pathogenic not provided 2017-05-26 criteria provided, single submitter clinical testing Although the c.2739delC mutation in the MYBPC3 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Serine 914, changing it to a Glutamine, and creating a premature stop codon at position 10 of the new reading frame, denoted p.Ser914GlnfsX10. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the MYBPC3 gene have been reported in association with HCM. In summary, c.2739delC in the MYBPC3 gene is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003586152 SCV004336940 pathogenic Hypertrophic cardiomyopathy 2024-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser914Glnfs*10) 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: 181087). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.