Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000204710 | SCV000259804 | uncertain significance | Pancreatic adenocarcinoma | 2020-10-05 | 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 219755). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 274 of the PALLD protein (p.Gly274Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. |
| Ambry Genetics | RCV004020510 | SCV002736263 | uncertain significance | not specified | 2021-08-23 | criteria provided, single submitter | clinical testing | The p.G761V variant (also known as c.2282G>T), located in coding exon 12 of the PALLD gene, results from a G to T substitution at nucleotide position 2282. The glycine at codon 761 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |