Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001904275 | SCV002120558 | uncertain significance | Pancreatic adenocarcinoma | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1358895). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 410 of the PALLD protein (p.Ser410Gly). |
| Ambry Genetics | RCV004039672 | SCV002745307 | uncertain significance | not specified | 2022-02-15 | criteria provided, single submitter | clinical testing | The p.S897G variant (also known as c.2689A>G), located in coding exon 15 of the PALLD gene, results from an A to G substitution at nucleotide position 2689. The serine at codon 897 is replaced by glycine, 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. |