Submissions for variant NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)

gnomAD frequency: 0.00318  dbSNP: rs71534278

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000157384	SCV000051413	likely benign	Primary dilated cardiomyopathy	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000183595	SCV000236064	benign	not specified	2017-04-17	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	RCV000183595	SCV000270589	likely benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing	p.Pro1112Leu in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (93/16504) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs71534278).
Invitae	RCV000043541	SCV000291120	benign	Dilated cardiomyopathy 1KK	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250407	SCV000318447	benign	Cardiovascular phenotype	2017-09-14	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.
Eurofins Ntd Llc (ga)	RCV000183595	SCV000332270	likely benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000183595	SCV000740641	uncertain significance	not specified	2016-06-22	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852613	SCV000995316	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2018-05-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000043541	SCV001138060	benign	Dilated cardiomyopathy 1KK	2023-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000024484	SCV001147940	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	MYPN: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000024484	SCV001157761	likely benign	not provided	2019-12-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000183595	SCV004038580	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Leiden Muscular Dystrophy (MYPN)	RCV000024484	SCV000045788	not provided	not provided	2012-04-27	no assertion provided	curation
OMIM	RCV000043541	SCV000071254	pathogenic	Dilated cardiomyopathy 1KK	2012-05-01	no assertion criteria provided	literature only
OMIM	RCV000043542	SCV000071255	pathogenic	Familial hypertrophic cardiomyopathy 22	2012-05-01	no assertion criteria provided	literature only
Blueprint Genetics	RCV000157384	SCV000207122	likely benign	Primary dilated cardiomyopathy	2014-06-25	no assertion criteria provided	clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000043541	SCV000244007	likely pathogenic	Dilated cardiomyopathy 1KK	2013-06-27	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000024484	SCV001742222	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000183595	SCV001917705	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000024484	SCV001928193	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000183595	SCV001953648	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000024484	SCV001971570	likely benign	not provided		no assertion criteria provided	clinical testing