Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004062950 | SCV002745603 | uncertain significance | not specified | 2023-10-02 | criteria provided, single submitter | clinical testing | The p.Q873R variant (also known as c.2618A>G), located in coding exon 14 of the PALLD gene, results from an A to G substitution at nucleotide position 2618. The glutamine at codon 873 is replaced by arginine, an amino acid with highly similar 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. |
| Invitae | RCV003585274 | SCV004246651 | uncertain significance | Pancreatic adenocarcinoma | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 386 of the PALLD protein (p.Gln386Arg). This variant is present in population databases (rs780764400, gnomAD no frequency). 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: 1793880). 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. 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. |