Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001361603 | SCV001557582 | uncertain significance | Pancreatic adenocarcinoma | 2021-07-19 | 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 not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 418 of the PALLD protein (p.Gln418Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. |
Ambry Genetics | RCV002550019 | SCV003622141 | uncertain significance | Inborn genetic diseases | 2022-05-09 | criteria provided, single submitter | clinical testing | The c.1252C>G (p.Q418E) alteration is located in exon 8 (coding exon 7) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 1252, causing the glutamine (Q) at amino acid position 418 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ambry Genetics | RCV003169803 | SCV003855694 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-24 | criteria provided, single submitter | clinical testing | The p.Q905E variant (also known as c.2713C>G), located in coding exon 15 of the PALLD gene, results from a C to G substitution at nucleotide position 2713. The glutamine at codon 905 is replaced by glutamic acid, 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. |