ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1875C>T (p.Pro625=)

gnomAD frequency: 0.17340  dbSNP: rs2673793
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181000 SCV000170621 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 RCV000181000 SCV000269390 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Pro625Pro in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 19% (1605/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs2673793).
Ambry Genetics RCV000247879 SCV000317513 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: 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 RCV000181000 SCV000740638 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079930 SCV001000080 benign Dilated cardiomyopathy 1KK 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000181000 SCV003928612 benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000024489 SCV005318789 benign not provided criteria provided, single submitter not provided
Leiden Muscular Dystrophy (MYPN) RCV000024489 SCV000045793 not provided not provided 2012-04-27 no assertion provided curation

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