Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002562132 | SCV002215400 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2021-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 534 of the TRDN protein (p.Ile534Arg). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Ambry Genetics | RCV002397971 | SCV002709157 | uncertain significance | Cardiovascular phenotype | 2022-08-08 | criteria provided, single submitter | clinical testing | The p.I534R variant (also known as c.1601T>G), located in coding exon 28 of the TRDN gene, results from a T to G substitution at nucleotide position 1601. The isoleucine at codon 534 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002503671 | SCV002812092 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV004793634 | SCV005407973 | uncertain significance | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | BP4 |