Submissions for variant NM_032578.4(MYPN):c.3279C>T (p.Asp1093=)

gnomAD frequency: 0.01152  dbSNP: rs115033934

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127082	SCV000170634	benign	not specified	2014-03-18	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	RCV000127082	SCV000269402	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Asp1093Asp in exon 17 of MYPN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 3.9% (173/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs115033934).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470956	SCV000563302	benign	Dilated cardiomyopathy 1KK	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620532	SCV000735662	benign	Cardiovascular phenotype	2015-09-29	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000470956	SCV000745065	benign	Dilated cardiomyopathy 1KK	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812103	SCV001159686	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000127082	SCV004038574	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812103	SCV005318814	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000127082	SCV001923807	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000127082	SCV001959966	benign	not specified		no assertion criteria provided	clinical testing