ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)

gnomAD frequency: 0.40619  dbSNP: rs7079481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172772 SCV000051584 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172772 SCV000170635 benign not specified 2013-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000172772 SCV000269403 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Pro1135Thr in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it has been identified in 48% (4116/8600) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs7079481).
Ambry Genetics RCV000252665 SCV000317454 benign Cardiovascular phenotype 2015-06-16 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000172772 SCV000740632 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625362 SCV000745066 benign Dilated cardiomyopathy 1KK 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000625362 SCV001000086 benign Dilated cardiomyopathy 1KK 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625362 SCV002015964 benign Dilated cardiomyopathy 1KK 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778667 SCV002015965 benign MYPN-related myopathy 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000172772 SCV003928620 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024493 SCV000045797 not provided not provided 2012-04-27 no assertion provided curation
Clinical Genetics, Academic Medical Center RCV000172772 SCV001925933 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000172772 SCV001957846 benign not specified no assertion criteria provided clinical testing

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.