Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000205097 | SCV000260416 | uncertain significance | Pancreatic adenocarcinoma | 2015-09-02 | criteria provided, single submitter | clinical testing | 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, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases and has not been reported in the literature. This sequence change replaces threonine with isoleucine at codon 355 of the PALLD protein (p.Thr355Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. |