Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000199356 | SCV000254725 | uncertain significance | Pancreatic adenocarcinoma | 2015-02-07 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 334 of the PALLD protein (p.Ser334Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant has not been published in the literature and is not present in population databases. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |