Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000205380 | SCV000260593 | uncertain significance | Pancreatic adenocarcinoma | 2021-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with proline at codon 40 of the PALLD protein (p.Thr40Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 220214). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 | RCV004837756 | SCV005463882 | uncertain significance | not specified | 2024-12-06 | criteria provided, single submitter | clinical testing | The p.T40P variant (also known as c.118A>C), located in coding exon 1 of the PALLD gene, results from an A to C substitution at nucleotide position 118. The threonine at codon 40 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. |