ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3728C>G (p.Pro1243Arg) (rs863225266)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201901 SCV000256646 uncertain significance Familial hypertrophic cardiomyopathy 1 2015-07-27 criteria provided, single submitter research The MYBPC3 Pro1243Arg is a a novel variant. It is absent from both the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). The variant was first identified in a deceased patient who had HCM. Following familial screening we identified this variant in our HCM proband as well as the proband's affected brother. Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect, but no prediction is called by PolyPhen-HCM. In summary, based on rarity in general populations, no other finding reports, and the limited familial data, we classify MYBPC3 Pro1243Arg as a variant "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.