Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653480 | SCV000775359 | uncertain significance | Pancreatic adenocarcinoma | 2020-05-29 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with PALLD-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 239 of the PALLD protein (p.Pro239Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. |
Ambry Genetics | RCV004025910 | SCV002727278 | uncertain significance | not specified | 2022-06-15 | criteria provided, single submitter | clinical testing | The p.P726T variant (also known as c.2176C>A), located in coding exon 11 of the PALLD gene, results from a C to A substitution at nucleotide position 2176. The proline at codon 726 is replaced by threonine, an amino acid with highly 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. |