ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1790G>A (p.Arg597His)

gnomAD frequency: 0.00158  dbSNP: rs150911078
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Total submissions: 12
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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 RCV000172573 SCV000054739 likely benign not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172573 SCV000225084 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000172573 SCV000236054 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183585 SCV000270583 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing p.Arg597His in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (44/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150911078).
Invitae RCV001087174 SCV000291111 benign Dilated cardiomyopathy 1KK 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621697 SCV000735697 likely benign Cardiovascular phenotype 2017-12-26 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000172573 SCV000987494 likely benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852610 SCV000995313 likely benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000183585 SCV004038576 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965237 SCV004782510 likely benign MYPN-related disorder 2021-11-14 criteria provided, single submitter 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).
Clinical Genetics, Academic Medical Center RCV000183585 SCV001978935 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000172573 SCV001979724 likely benign not provided no assertion criteria provided clinical testing

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