ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)

gnomAD frequency: 0.39079  dbSNP: rs7916821
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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 RCV000172768 SCV000051580 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172768 SCV000170624 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 RCV000172768 SCV000269394 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Ser707Asn in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 48% (4126/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs7916821).
Ambry Genetics RCV000247720 SCV000317453 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 RCV000172768 SCV000740636 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV001079912 SCV001000083 benign Dilated cardiomyopathy 1KK 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079912 SCV002015950 benign Dilated cardiomyopathy 1KK 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778665 SCV002015951 benign MYPN-related myopathy 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000172768 SCV003928609 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024491 SCV000045795 not provided not provided 2012-04-27 no assertion provided curation

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