Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000123181 | SCV000166486 | uncertain significance | Pancreatic adenocarcinoma | 2023-06-09 | 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: 136015). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs150764613, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 301 of the PALLD protein (p.Ile301Ser). |
| Ambry Genetics | RCV004019711 | SCV002733215 | uncertain significance | not specified | 2022-09-13 | criteria provided, single submitter | clinical testing | The p.I788S variant (also known as c.2363T>G), located in coding exon 12 of the PALLD gene, results from a T to G substitution at nucleotide position 2363. The isoleucine at codon 788 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |