Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001912049 | SCV002139864 | uncertain significance | Pancreatic adenocarcinoma | 2021-03-19 | 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 not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 471 of the PALLD protein (p.Lys471Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
| Ambry Genetics | RCV004041077 | SCV002747073 | uncertain significance | not specified | 2023-12-02 | criteria provided, single submitter | clinical testing | The p.K958E variant (also known as c.2872A>G), located in coding exon 16 of the PALLD gene, results from an A to G substitution at nucleotide position 2872. The lysine at codon 958 is replaced by glutamic acid, an amino acid with similar 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. |