Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000810794 | SCV000951028 | uncertain significance | Pancreatic adenocarcinoma | 2018-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 247 of the PALLD protein (p.Glu247Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PALLD-related disease. 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. 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 | RCV004028708 | SCV002727495 | uncertain significance | not specified | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.E734K variant (also known as c.2200G>A) is located in coding exon 12 of the PALLD gene. The glutamic acid at codon 734 is replaced by lysine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 12. 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. |