Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001351329 | SCV001545791 | uncertain significance | Pancreatic adenocarcinoma | 2023-09-14 | 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. ClinVar contains an entry for this variant (Variation ID: 1046734). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs201412478, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 496 of the PALLD protein (p.Thr496Ile). |
Ambry Genetics | RCV004837800 | SCV005463959 | uncertain significance | not specified | 2024-12-09 | criteria provided, single submitter | clinical testing | The p.T496I variant (also known as c.1487C>T), located in coding exon 8 of the PALLD gene, results from a C to T substitution at nucleotide position 1487. The threonine at codon 496 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |