ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) (rs727503181)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151083 SCV000198832 likely benign not specified 2013-08-07 criteria provided, single submitter clinical testing Thr959Thr in exon 27 of the MYBPC3 gene: This variant does not alter an amino ac id residue and is not located within the conserved splice consensus sequence. Co mputational tools predict the creation of a novel splice site but their accuracy is unknown. In summary, this variant is more likely benign though a role in dis ease cannot be fully excluded.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770334 SCV000901768 uncertain significance Cardiomyopathy 2015-11-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770334 SCV001352070 likely benign Cardiomyopathy 2019-01-06 criteria provided, single submitter clinical testing
Invitae RCV001208725 SCV001380130 uncertain significance Hypertrophic cardiomyopathy 2020-09-01 criteria provided, single submitter clinical testing This sequence change affects codon 959 of the MYBPC3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYBPC3 protein. This variant is present in population databases (rs727503181, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 164058). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.