Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001230673 | SCV001403161 | uncertain significance | Pancreatic adenocarcinoma | 2022-06-08 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs762353255, gnomAD 0.003%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 957658). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 522 of the PALLD protein (p.Pro522Thr). |
| Ambry Genetics | RCV004033096 | SCV002753886 | uncertain significance | not specified | 2022-10-17 | criteria provided, single submitter | clinical testing | The p.P1009T variant (also known as c.3025C>A), located in coding exon 17 of the PALLD gene, results from a C to A substitution at nucleotide position 3025. The proline at codon 1009 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. |