Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002037991 | SCV002270403 | uncertain significance | Pancreatic adenocarcinoma | 2020-11-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C55". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related conditions. This sequence change replaces valine with alanine at codon 549 of the PALLD protein (p.Val549Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. |
| Ambry Genetics | RCV004043240 | SCV002605996 | uncertain significance | not specified | 2021-06-20 | criteria provided, single submitter | clinical testing | The p.V1036A variant (also known as c.3107T>C), located in coding exon 17 of the PALLD gene, results from a T to C substitution at nucleotide position 3107. The valine at codon 1036 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |