Submissions for variant NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys)

gnomAD frequency: 0.04308  dbSNP: rs74143030

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172765	SCV000051577	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172765	SCV000170618	benign	not specified	2013-12-10	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	RCV000172765	SCV000269387	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Glu467Lys in exon 8 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 14.4% (636/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74143030).
Ambry Genetics	RCV000242920	SCV000318783	benign	Cardiovascular phenotype	2015-06-26	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.
Invitae	RCV000472755	SCV000563288	benign	Dilated cardiomyopathy 1KK	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000472755	SCV000743683	benign	Dilated cardiomyopathy 1KK	2016-10-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000472755	SCV000745047	benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYPN)	RCV000024520	SCV000045824	not provided	not provided	2012-04-27	no assertion provided	curation
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172765	SCV001798661	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000172765	SCV001918254	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172765	SCV001955299	benign	not specified		no assertion criteria provided	clinical testing