ClinVar Miner

Submissions for variant NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn)

dbSNP: rs1742290113
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001338801 SCV001532495 uncertain significance Hypertrophic cardiomyopathy 2020-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYOZ2-related conditions. 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. This sequence change replaces aspartic acid with asparagine at codon 254 of the MYOZ2 protein (p.Asp254Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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.