Submissions for variant NM_032578.4(MYPN):c.1662A>C (p.Ala554=)

gnomAD frequency: 0.00037  dbSNP: rs71584488

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000532204	SCV000659181	likely benign	Dilated cardiomyopathy 1KK	2024-01-22	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000532204	SCV000745049	likely benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000825204	SCV000966481	likely benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ala554Ala in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/8600 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs71584488).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000024495	SCV001158338	likely benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000024495	SCV001840832	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390118	SCV002703305	likely benign	Cardiovascular phenotype	2019-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000825204	SCV004122350	benign	not specified	2023-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000024495	SCV004126621	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MYPN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003964813	SCV004776626	likely benign	MYPN-related condition	2020-11-02	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Muscular Dystrophy (MYPN)	RCV000024495	SCV000045799	not provided	not provided	2012-04-27	no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000532204	SCV000732948	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000825204	SCV001917881	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000024495	SCV001930953	likely benign	not provided		no assertion criteria provided	clinical testing