Submissions for variant NM_032578.4(MYPN):c.1293C>A (p.Ile431=)

gnomAD frequency: 0.00081  dbSNP: rs147184158

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179546	SCV000231808	likely benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000179546	SCV000270580	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	p.Ile431Ile in exon 7 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 0.6% (62/10150) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org/; dbSNP rs147184158).
Ambry Genetics	RCV000254353	SCV000317563	likely benign	Cardiovascular phenotype	2015-09-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV000179546	SCV000516172	benign	not specified	2015-10-28	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.
Invitae	RCV000457882	SCV000563306	likely benign	Dilated cardiomyopathy 1KK	2024-02-01	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000457882	SCV000745046	likely benign	Dilated cardiomyopathy 1KK	2015-09-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000179546	SCV003928618	benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723754	SCV004126619	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	MYPN: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003937625	SCV004747705	likely benign	MYPN-related disorder	2019-08-05	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000457882	SCV000732946	likely benign	Dilated cardiomyopathy 1KK		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000179546	SCV001919419	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723754	SCV001952560	likely benign	not provided		no assertion criteria provided	clinical testing