Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002543236 | SCV001497817 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the TRDN gene. It does not directly change the encoded amino acid sequence of the TRDN protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs747825904, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TRDN-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. |