Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000198039 | SCV000254736 | uncertain significance | Pancreatic adenocarcinoma | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 246 of the PALLD protein (p.Gln246Glu). This variant is present in population databases (rs140360991, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 216539). 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. |
| Ambry Genetics | RCV004020469 | SCV003855230 | uncertain significance | not specified | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.Q733E variant (also known as c.2197C>G), located in coding exon 11 of the PALLD gene, results from a C to G substitution at nucleotide position 2197. The glutamine at codon 733 is replaced by glutamic acid, 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. |