ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1187-2A>G

dbSNP: rs578024729
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680131 SCV000807574 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 5 criteria provided, single submitter clinical testing
Invitae RCV002531412 SCV001538541 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334239 SCV002634913 uncertain significance Cardiovascular phenotype 2021-03-24 criteria provided, single submitter clinical testing The c.1187-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 17 in the TRDN gene. This variant was detected in a cardiomyopathy/arrhythmia genetic testing cohort and whole exome sequencing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases. (Yang Y et al. JAMA, 2014 Nov;312:1870-9; van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411589 SCV004115395 uncertain significance TRDN-related condition 2023-11-06 criteria provided, single submitter clinical testing The TRDN c.1187-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant was reported in an individual via arrhythmia panel testing, however detailed phenotypic information was not provided (Supplementary File 2, van Lint et al 2019. PubMed ID: 30847666). This variant is reported in 0.44% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-123699045-T-C). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.