Total submissions: 4
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. |
Prevention |
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. |