ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)

gnomAD frequency: 0.00083  dbSNP: rs71534280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000024485 SCV000236067 likely benign not provided 2020-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22892539, 22337857, 23299917, 18006477, 27896284)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219549 SCV000272186 uncertain significance not specified 2017-05-18 criteria provided, single submitter clinical testing The p.Val1195Met variant in MYPN has been reported in at least 2 individuals wit h DCM (Duboscq-Bidot 2008, LMM data). It has been reported in ClinVar (Variant I D: 31792) with conflicting interpretations. This variant has also been identifie d in 0.2% (53/24012) of African chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs71534280). Computational predi ction tools and conservation analysis suggest that this variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. A single in vitro functional study reports that the p.Val1195Met variant ma y impact protein function (Duboscq-Bidot 2008). However, these types of assays m ay not accurately represent biological function. In summary, the clinical signif icance of the p.Val1195Met variant is uncertain.
Ambry Genetics RCV000621596 SCV000736229 likely benign Cardiovascular phenotype 2019-04-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000043543 SCV000814868 likely benign Dilated cardiomyopathy 1KK 2024-01-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000043543 SCV000930499 uncertain significance Dilated cardiomyopathy 1KK 2019-04-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000219549 SCV004241220 likely benign not specified 2023-12-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989299 SCV004807274 uncertain significance MYPN-related myopathy 2024-03-26 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024485 SCV000045789 not provided not provided 2012-04-27 no assertion provided curation
OMIM RCV000043543 SCV000071256 pathogenic Dilated cardiomyopathy 1KK 2008-01-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV000024485 SCV001917050 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000024485 SCV001926413 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004730857 SCV005338662 likely benign MYPN-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.