Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001321186 | SCV001512005 | uncertain significance | Pancreatic adenocarcinoma | 2023-03-04 | criteria provided, single submitter | clinical testing | 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 disruptive. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1021424). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs367575623, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 475 of the PALLD protein (p.Arg475Cys). |
| Ambry Genetics | RCV004035026 | SCV002747754 | uncertain significance | not specified | 2022-01-18 | criteria provided, single submitter | clinical testing | The p.R962C variant (also known as c.2884C>T), located in coding exon 16 of the PALLD gene, results from a C to T substitution at nucleotide position 2884. The arginine at codon 962 is replaced by cysteine, 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. |