Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000227055 | SCV000286292 | uncertain significance | Pancreatic adenocarcinoma | 2022-10-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 238612). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 0.02%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 166 of the PALLD protein (p.Thr166Pro). |
Ambry Genetics | RCV004837759 | SCV005463954 | uncertain significance | not specified | 2024-12-07 | criteria provided, single submitter | clinical testing | The p.T166P variant (also known as c.496A>C), located in coding exon 1 of the PALLD gene, results from an A to C substitution at nucleotide position 496. The threonine at codon 166 is replaced by proline, an amino acid with highly 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. |