Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002651414 | SCV003524107 | uncertain significance | Pancreatic adenocarcinoma | 2022-05-04 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 128 of the PALLD protein (p.Ser128Leu). 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 tolerated. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). |
Ambry Genetics | RCV004827945 | SCV005463955 | uncertain significance | not specified | 2024-12-08 | criteria provided, single submitter | clinical testing | The p.S128L variant (also known as c.383C>T), located in coding exon 1 of the PALLD gene, results from a C to T substitution at nucleotide position 383. The serine at codon 128 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |