ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)

gnomAD frequency: 0.39447  dbSNP: rs10823148
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Total submissions: 10
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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 RCV000172766 SCV000051578 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172766 SCV000170622 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 RCV000172766 SCV000269391 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Phe628Leu in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 51% (4382/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs10823148).
Ambry Genetics RCV000252462 SCV000317620 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 RCV000172766 SCV000740633 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV001079911 SCV001000081 benign Dilated cardiomyopathy 1KK 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079911 SCV002015946 benign Dilated cardiomyopathy 1KK 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778668 SCV002015947 benign MYPN-related myopathy 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000172766 SCV003928615 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024497 SCV000045801 not provided not provided 2012-04-27 no assertion provided curation

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