ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3136A>G (p.Met1046Val)

dbSNP: rs1566529310
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770483 SCV000901927 uncertain significance Cardiomyopathy 2016-01-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770483 SCV001344009 uncertain significance Cardiomyopathy 2020-05-12 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 1046 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.