Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000196326 | SCV000254738 | uncertain significance | Pancreatic adenocarcinoma | 2015-02-26 | criteria provided, single submitter | clinical testing | In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance. This variant has not been published in the literature and is not present in population databases. 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 tolerated, but these predictions have not been confirmed by published functional studies. This sequence change replaces leucine with phenylalanine at codon 32 of the PALLD protein (p.Leu32Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. |