Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001907591 | SCV002122467 | uncertain significance | Pancreatic adenocarcinoma | 2021-03-11 | 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 C25"). This variant has not been reported in the literature in individuals with PALLD-related conditions. This variant is present in population databases (rs375970126, ExAC 0.001%). This sequence change replaces isoleucine with valine at codon 417 of the PALLD protein (p.Ile417Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. |
| Ambry Genetics | RCV004039772 | SCV002745011 | uncertain significance | not specified | 2021-09-20 | criteria provided, single submitter | clinical testing | The p.I904V variant (also known as c.2710A>G), located in coding exon 15 of the PALLD gene, results from an A to G substitution at nucleotide position 2710. The isoleucine at codon 904 is replaced by valine, an amino acid with highly similar 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. |