Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001304398 | SCV001493676 | uncertain significance | Pancreatic adenocarcinoma | 2021-10-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs774568391, ExAC 0.007%). This sequence change replaces serine with glycine at codon 468 of the PALLD protein (p.Ser468Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. 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. 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. |
| Ambry Genetics | RCV004036309 | SCV002749822 | uncertain significance | not specified | 2024-01-26 | criteria provided, single submitter | clinical testing | The p.S955G variant (also known as c.2863A>G), located in coding exon 16 of the PALLD gene, results from an A to G substitution at nucleotide position 2863. The serine at codon 955 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |