Submissions for variant NM_032578.4(MYPN):c.1134C>T (p.Ile378=)

gnomAD frequency: 0.00504  dbSNP: rs145701607

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000179002	SCV000170613	benign	not specified	2014-03-10	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.
Eurofins Ntd Llc (ga)	RCV000179002	SCV000231190	benign	not specified	2015-03-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000179002	SCV000269384	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ile378Ile in exon 6 of MYPN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.9% (75/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs145701607).
Invitae	RCV000232955	SCV000291108	benign	Dilated cardiomyopathy 1KK	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618037	SCV000735466	benign	Cardiovascular phenotype	2015-07-31	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000232955	SCV000743680	benign	Dilated cardiomyopathy 1KK	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232955	SCV000745043	likely benign	Dilated cardiomyopathy 1KK	2017-10-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812098	SCV001474363	benign	not provided	2023-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812098	SCV002821512	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYPN: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000232955	SCV000732942	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000179002	SCV001923306	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000179002	SCV001959089	benign	not specified		no assertion criteria provided	clinical testing