ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)

gnomAD frequency: 0.00001  dbSNP: rs374035597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002520396 SCV001400751 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 589 of the TRDN protein (p.Pro589Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs374035597, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. ClinVar contains an entry for this variant (Variation ID: 355212). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002488789 SCV002781048 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022015 SCV005024119 uncertain significance Cardiovascular phenotype 2024-03-11 criteria provided, single submitter clinical testing The p.P589T variant (also known as c.1765C>A), located in coding exon 32 of the TRDN gene, results from a C to A substitution at nucleotide position 1765. The proline at codon 589 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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.