ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)

gnomAD frequency: 0.00003  dbSNP: rs768339148
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
Ambry Genetics RCV000618443 SCV000737252 uncertain significance Cardiovascular phenotype 2021-11-15 criteria provided, single submitter clinical testing The p.I867V variant (also known as c.2599A>G), located in coding exon 25 of the MYBPC3 gene, results from an A to G substitution at nucleotide position 2599. The isoleucine at codon 867 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769318 SCV000900696 uncertain significance Cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV001210902 SCV001382414 uncertain significance Hypertrophic cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 519160). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is present in population databases (rs768339148, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 867 of the MYBPC3 protein (p.Ile867Val).
Revvity Omics, Revvity RCV003133405 SCV003817154 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing

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.