Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002038729 | SCV002309397 | uncertain significance | Pancreatic adenocarcinoma | 2021-10-01 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with glutamic acid at codon 449 of the PALLD protein (p.Gly449Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
| Ambry Genetics | RCV004044805 | SCV002747462 | uncertain significance | not specified | 2021-12-13 | criteria provided, single submitter | clinical testing | The p.G936E variant (also known as c.2807G>A), located in coding exon 16 of the PALLD gene, results from a G to A substitution at nucleotide position 2807. The glycine at codon 936 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |