ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2632G>A (p.Val878Ile)

gnomAD frequency: 0.00001  dbSNP: rs730880574
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
GeneDx RCV000158179 SCV000208114 uncertain significance not provided 2014-03-20 criteria provided, single submitter clinical testing This variant is denoted p.Val878Ile (GTA>ATA): c.2632 G>A in exon 26 of the MYBPC3 gene (NM_000256.3). The V878I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V878I variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these population. However, the V878I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is class conserved through mammals. Nevertheless, in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense mutations in nearby residues (P873L, T885M) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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.