Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998677 | SCV001154864 | likely pathogenic | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003117675 | SCV003785111 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-04-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TRDN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu431Glyfs*8) in the TRDN gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRDN cause disease. 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. |