Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001926636 | SCV002204614 | uncertain significance | Pancreatic adenocarcinoma | 2020-12-16 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with PALLD-related conditions. This variant is present in population databases (rs190961769, ExAC 0.009%). This sequence change replaces alanine with valine at codon 492 of the PALLD protein (p.Ala492Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Ambry Genetics | RCV004044272 | SCV002752435 | uncertain significance | not specified | 2021-10-14 | criteria provided, single submitter | clinical testing | The p.A979V variant (also known as c.2936C>T), located in coding exon 16 of the PALLD gene, results from a C to T substitution at nucleotide position 2936. The alanine at codon 979 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |