Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004061656 | SCV002717895 | uncertain significance | not specified | 2022-02-15 | criteria provided, single submitter | clinical testing | The p.S662N variant (also known as c.1985G>A), located in coding exon 10 of the PALLD gene, results from a G to A substitution at nucleotide position 1985. The serine at codon 662 is replaced by asparagine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003100979 | SCV003502916 | uncertain significance | Pancreatic adenocarcinoma | 2023-03-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 175 of the PALLD protein (p.Ser175Asn). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1783867). |