Submissions for variant NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)

gnomAD frequency: 0.00900  dbSNP: rs192289289

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219825	SCV000269904	benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing	p.Glu135Lys in exon 4 of TRDN: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (118/8804) of European chromoso mes including 1 homozygous individual by the Exome Aggregation Consortium (http: //exac.broadinstitute.org/; dbSNP rs192289289).
Invitae	RCV002517464	SCV000289133	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000219825	SCV000531892	benign	not specified	2016-09-28	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.
Ambry Genetics	RCV000618725	SCV000735120	benign	Cardiovascular phenotype	2015-04-22	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001287240	SCV001473907	benign	Catecholaminergic polymorphic ventricular tachycardia 5	2023-10-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002292492	SCV002586139	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TRDN: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000219825	SCV003928255	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000219825	SCV001923513	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000219825	SCV001959426	benign	not specified		no assertion criteria provided	clinical testing