ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys)

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
Invitae RCV000692278 SCV000820092 uncertain significance Hypertrophic cardiomyopathy 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1555 of the MYH7 protein (p.Glu1555Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with hypertrophic cardiomyopathy (HCM) (PMID: 11968089, 22765922). Experimental studies have shown that this missense change disrupts protein function in vitro (PMID: 24047955). 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.