Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001887591 | SCV002162319 | uncertain significance | Pancreatic adenocarcinoma | 2020-12-10 | 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 C55"). 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 lysine with glutamic acid at codon 172 of the PALLD protein (p.Lys172Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
Ambry Genetics | RCV004041624 | SCV003573297 | uncertain significance | not specified | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.514A>G (p.K172E) alteration is located in exon 3 (coding exon 2) of the PALLD gene. This alteration results from a A to G substitution at nucleotide position 514, causing the lysine (K) at amino acid position 172 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |