Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000206157 | SCV000260830 | uncertain significance | Pancreatic adenocarcinoma | 2015-09-24 | criteria provided, single submitter | clinical testing | In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. 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 (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. This variant is present in population databases (ExAC 0.02%) but has not been reported in the literature. This sequence change replaces cysteine with tyrosine at codon 581 of the PALLD protein (p.Cys581Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. |
| Ambry Genetics | RCV004020530 | SCV002610386 | uncertain significance | not specified | 2022-01-27 | criteria provided, single submitter | clinical testing | The p.C1068Y variant (also known as c.3203G>A), located in coding exon 18 of the PALLD gene, results from a G to A substitution at nucleotide position 3203. The cysteine at codon 1068 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |