Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001001216 | SCV001158377 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 5 | 2019-05-02 | criteria provided, single submitter | clinical testing | The TRDN c.284C>T; p.Ala95Val variant (rs764770921), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 95 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ala95Val variant is uncertain at this time. |
| Ambry Genetics | RCV002434392 | SCV002748158 | uncertain significance | Cardiovascular phenotype | 2019-10-21 | criteria provided, single submitter | clinical testing | The p.A95V variant (also known as c.284C>T), located in coding exon 3 of the TRDN gene, results from a C to T substitution at nucleotide position 284. The alanine at codon 95 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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. |