Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002612246 | SCV003512799 | uncertain significance | Pancreatic adenocarcinoma | 2022-11-22 | criteria provided, single submitter | clinical testing | 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs764754301, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 514 of the PALLD protein (p.Val514Ile). |
Fulgent Genetics, |
RCV005034784 | SCV005662060 | uncertain significance | Pancreatic cancer, susceptibility to, 1 | 2024-05-10 | criteria provided, single submitter | clinical testing |