ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)

dbSNP: rs548487697
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156752 SCV000206473 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Glu525Asp variant in VCL gene has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the Glu525Asp var iant is uncertain.
Genetics and Genomics Program, Sidra Medicine RCV001293104 SCV001434088 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Invitae RCV001481749 SCV001686097 likely benign Dilated cardiomyopathy 1W 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390369 SCV002703588 benign Cardiovascular phenotype 2022-08-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.