Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000231402 | SCV000286288 | uncertain significance | Pancreatic adenocarcinoma | 2022-06-13 | 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 238608). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs376394488, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 569 of the PALLD protein (p.Arg569Gln). |
| Ambry Genetics | RCV004020779 | SCV003855677 | uncertain significance | not specified | 2023-02-16 | criteria provided, single submitter | clinical testing | The p.R1056Q variant (also known as c.3167G>A), located in coding exon 17 of the PALLD gene, results from a G to A substitution at nucleotide position 3167. The arginine at codon 1056 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |