Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003584267 | SCV004315536 | uncertain significance | Pancreatic adenocarcinoma | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change creates a premature translational stop signal (p.Ser624Thrfs*22) in the PALLD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the PALLD protein. This variant is not present in population databases (gnomAD no frequency). 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. |