Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001926160 | SCV002189086 | uncertain significance | Pancreatic adenocarcinoma | 2023-05-15 | criteria provided, single submitter | clinical testing | 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. 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: 1422501). This variant is present in population databases (rs766621175, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 172 of the PALLD protein (p.Lys172Met). |
| Ambry Genetics | RCV004044155 | SCV003855685 | uncertain significance | not specified | 2023-02-27 | criteria provided, single submitter | clinical testing | The p.K659M variant (also known as c.1976A>T), located in coding exon 10 of the PALLD gene, results from an A to T substitution at nucleotide position 1976. The lysine at codon 659 is replaced by methionine, an amino acid with 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. |