Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000537608 | SCV000656937 | uncertain significance | Pancreatic adenocarcinoma | 2021-04-06 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PALLD-related disease. This sequence change replaces lysine with glutamic acid at codon 589 of the PALLD protein (p.Lys589Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
| Ambry Genetics | RCV004024367 | SCV002611371 | uncertain significance | not specified | 2022-03-16 | criteria provided, single submitter | clinical testing | The p.K1076E variant (also known as c.3226A>G), located in coding exon 18 of the PALLD gene, results from an A to G substitution at nucleotide position 3226. The lysine at codon 1076 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. |