Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003867108 | SCV004671809 | uncertain significance | Pancreatic adenocarcinoma | 2023-03-27 | 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. 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. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 16 of the PALLD protein (p.Gly16Arg). |
Ambry Genetics | RCV004837926 | SCV005463900 | uncertain significance | not specified | 2024-11-25 | criteria provided, single submitter | clinical testing | The p.G16R variant (also known as c.46G>C), located in coding exon 1 of the PALLD gene, results from a G to C substitution at nucleotide position 46. The glycine at codon 16 is replaced by arginine, 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. |