Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000703507 | SCV000832410 | uncertain significance | Pancreatic adenocarcinoma | 2023-04-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 580068). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 513 of the PALLD protein (p.Val513Ala). |
Ambry Genetics | RCV004827784 | SCV005463957 | uncertain significance | not specified | 2024-12-08 | criteria provided, single submitter | clinical testing | The p.V513A variant (also known as c.1538T>C), located in coding exon 8 of the PALLD gene, results from a T to C substitution at nucleotide position 1538. The valine at codon 513 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
Fulgent Genetics, |
RCV005027874 | SCV005662059 | uncertain significance | Pancreatic cancer, susceptibility to, 1 | 2024-04-12 | criteria provided, single submitter | clinical testing |