Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001373548 | SCV001570268 | uncertain significance | Pancreatic adenocarcinoma | 2020-07-26 | 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related conditions. This variant is present in population databases (rs753881003, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 541 of the PALLD protein (p.Arg541Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
| Ambry Genetics | RCV004037575 | SCV002608713 | uncertain significance | not specified | 2022-09-21 | criteria provided, single submitter | clinical testing | The p.R1028W variant (also known as c.3082C>T), located in coding exon 17 of the PALLD gene, results from a C to T substitution at nucleotide position 3082. The arginine at codon 1028 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |