Submissions for variant NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)

gnomAD frequency: 0.17356  dbSNP: rs17737379

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218168	SCV000269892	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Asp419Glu in exon 19 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 25.7% (908/3534) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs17737379).
PreventionGenetics, part of Exact Sciences	RCV000218168	SCV000311369	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000218168	SCV000520320	benign	not specified	2016-09-27	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.
Ambry Genetics	RCV000621549	SCV000735004	benign	Cardiovascular phenotype	2015-04-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517456	SCV001718082	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000218168	SCV003928253	likely benign	not specified	2023-04-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000218168	SCV001919453	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000218168	SCV001958379	benign	not specified		no assertion criteria provided	clinical testing