Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001874855 | SCV002146180 | uncertain significance | Pancreatic adenocarcinoma | 2021-07-14 | criteria provided, single submitter | clinical testing | 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 not present in population databases (ExAC no frequency). This sequence change replaces leucine with glutamine at codon 433 of the PALLD protein (p.Leu433Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. 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 | RCV004040567 | SCV002752171 | uncertain significance | not specified | 2022-01-17 | criteria provided, single submitter | clinical testing | The p.L920Q variant (also known as c.2759T>A), located in coding exon 15 of the PALLD gene, results from a T to A substitution at nucleotide position 2759. The leucine at codon 920 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |