Submissions for variant NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)

gnomAD frequency: 0.01556  dbSNP: rs7771303

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223604	SCV000269899	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ile540Met in exon 28 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 3.5% (86/2472) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs7771303).
PreventionGenetics, part of Exact Sciences	RCV000223604	SCV000311374	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000223604	SCV000525691	benign	not specified	2016-10-06	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	RCV002517461	SCV000559450	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618572	SCV000735306	benign	Cardiovascular phenotype	2015-05-11	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	RCV001285326	SCV001471737	benign	Catecholaminergic polymorphic ventricular tachycardia 5	2023-08-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000223604	SCV004812962	likely benign	not specified	2024-02-25	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000223604	SCV001979158	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001729460	SCV001979480	likely benign	not provided		no assertion criteria provided	clinical testing