Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000199118 | SCV000254731 | uncertain significance | Pancreatic adenocarcinoma | 2018-03-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 641 of the PALLD protein (p.Ser641Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PALLD-related disease. ClinVar contains an entry for this variant (Variation ID: 216535). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Ambry Genetics | RCV004837753 | SCV005463871 | uncertain significance | not specified | 2024-12-08 | criteria provided, single submitter | clinical testing | The p.S641L variant (also known as c.1922C>T), located in coding exon 11 of the PALLD gene, results from a C to T substitution at nucleotide position 1922. The serine at codon 641 is replaced by leucine, an amino acid with dissimilar 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, |
RCV005031747 | SCV005662063 | uncertain significance | Pancreatic cancer, susceptibility to, 1 | 2024-04-22 | criteria provided, single submitter | clinical testing |