Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001352288 | SCV001546832 | uncertain significance | Pancreatic adenocarcinoma | 2020-03-29 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with PALLD-related conditions. This variant is present in population databases (rs753140123, ExAC 0.01%). This sequence change replaces glutamic acid with valine at codon 184 of the PALLD protein (p.Glu184Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
Ambry Genetics | RCV004036679 | SCV002722951 | uncertain significance | not specified | 2023-09-25 | criteria provided, single submitter | clinical testing | The p.E671V variant (also known as c.2012A>T), located in coding exon 10 of the PALLD gene, results from an A to T substitution at nucleotide position 2012. The glutamic acid at codon 671 is replaced by valine, an amino acid with dissimilar 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. |