Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001891561 | SCV002162849 | uncertain significance | Pancreatic adenocarcinoma | 2021-04-04 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 213 of the PALLD protein (p.Pro213Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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). |
| Ambry Genetics | RCV004041583 | SCV002730347 | uncertain significance | not specified | 2021-12-20 | criteria provided, single submitter | clinical testing | The p.P700L variant (also known as c.2099C>T), located in coding exon 10 of the PALLD gene, results from a C to T substitution at nucleotide position 2099. The proline at codon 700 is replaced by leucine, 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. |