Submissions for variant NM_006073.4(TRDN):c.430C>T (p.His144Tyr)

gnomAD frequency: 0.00232  dbSNP: rs79182520

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213504	SCV000269905	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	His144Tyr in exon 5 of TRDN: This variant is not expected to have clinical signi ficance because it has been identified in 11.2% (20/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs79182520).
GeneDx	RCV000213504	SCV000525712	benign	not specified	2016-10-12	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	RCV002519599	SCV000559453	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618354	SCV000735606	benign	Cardiovascular phenotype	2016-02-01	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000213504	SCV004122311	likely benign	not specified	2023-10-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003741164	SCV004564917	benign	Catecholaminergic polymorphic ventricular tachycardia 5	2023-11-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977606	SCV004789069	benign	TRDN-related disorder	2019-04-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572730	SCV001797539	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000213504	SCV001921794	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000213504	SCV001953421	benign	not specified		no assertion criteria provided	clinical testing