ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1647T>C (p.Ser549=)

gnomAD frequency: 0.57747  dbSNP: rs2673794
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180998 SCV000170619 benign not specified 2013-11-22 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 RCV000180998 SCV000269388 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Ser549Ser in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 70% (5986/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs2673794).
Ambry Genetics RCV000247309 SCV000317619 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV000180998 SCV000740635 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV001079910 SCV001000079 benign Dilated cardiomyopathy 1KK 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079910 SCV002015944 benign Dilated cardiomyopathy 1KK 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778663 SCV002015945 benign MYPN-related myopathy 2021-09-05 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024488 SCV000045792 not provided not provided 2012-04-27 no assertion provided curation

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