Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000465884 | SCV000551435 | uncertain significance | Pancreatic adenocarcinoma | 2022-10-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 414 of the PALLD protein (p.Asn414Lys). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 410614). |
Ambry Genetics | RCV004837762 | SCV005462967 | uncertain significance | not specified | 2024-08-10 | criteria provided, single submitter | clinical testing | The p.N901K variant (also known as c.2703T>A), located in coding exon 15 of the PALLD gene, results from a T to A substitution at nucleotide position 2703. The asparagine at codon 901 is replaced by lysine, an amino acid with similar 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. |