Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002529919 | SCV000760645 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-03-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 435 of the TRDN protein (p.Ala435Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 532360). 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. |
Ambry Genetics | RCV002386040 | SCV002689930 | uncertain significance | Cardiovascular phenotype | 2024-07-25 | criteria provided, single submitter | clinical testing | The c.1304C>T (p.A435V) alteration is located in exon 20 (coding exon 20) of the TRDN gene. This alteration results from a C to T substitution at nucleotide position 1304, causing the alanine (A) at amino acid position 435 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002492992 | SCV002782727 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 | 2021-10-18 | criteria provided, single submitter | clinical testing |