ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3582C>T (p.Arg1194=)

gnomAD frequency: 0.00005  dbSNP: rs139820597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000213478 SCV000270592 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing p.Arg1194Arg in exon 19 of MYPN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/10296 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs139820597).
Invitae RCV001482690 SCV001687064 likely benign Dilated cardiomyopathy 1KK 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460060 SCV002618096 likely benign Cardiovascular phenotype 2019-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.