Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205898 | SCV000262031 | uncertain significance | Pancreatic adenocarcinoma | 2022-10-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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 C15"). ClinVar contains an entry for this variant (Variation ID: 220991). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 555 of the PALLD protein (p.Phe555Leu). |
Ambry Genetics | RCV004020546 | SCV002607369 | uncertain significance | not specified | 2022-04-24 | criteria provided, single submitter | clinical testing | The p.F1042L variant (also known as c.3126T>A), located in coding exon 17 of the PALLD gene, results from a T to A substitution at nucleotide position 3126. The phenylalanine at codon 1042 is replaced by leucine, an amino acid with highly 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. |