Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002525571 | SCV000548537 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 24 of the TRDN protein (p.Val24Glu). This variant is present in population databases (rs201097255, gnomAD 0.06%). 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: 408736). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRDN protein function. 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. |
| Gene |
RCV001712418 | SCV000573746 | uncertain significance | not provided | 2024-04-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV000620120 | SCV000737047 | uncertain significance | Cardiovascular phenotype | 2023-01-01 | criteria provided, single submitter | clinical testing | The p.V24E variant (also known as c.71T>A), located in coding exon 2 of the TRDN gene, results from a T to A substitution at nucleotide position 71. The valine at codon 24 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002480402 | SCV002776569 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 | 2021-11-05 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV001712418 | SCV005189225 | uncertain significance | not provided | criteria provided, single submitter | not provided |