Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001222010 | SCV001394089 | uncertain significance | Pancreatic adenocarcinoma | 2023-07-07 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 950324). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs149631023, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 169 of the PALLD protein (p.Gly169Arg). |
Ambry Genetics | RCV004827799 | SCV005463884 | uncertain significance | not specified | 2024-11-20 | criteria provided, single submitter | clinical testing | The p.G169R variant (also known as c.505G>A), located in coding exon 2 of the PALLD gene, results from a G to A substitution at nucleotide position 505. The glycine at codon 169 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |