ClinVar Miner

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

gnomAD frequency: 0.40619  dbSNP: rs7079481
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Total submissions: 13
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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: 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.
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

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