Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001348034 | SCV001542320 | uncertain significance | Pancreatic adenocarcinoma | 2021-10-28 | 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 C15"). ClinVar contains an entry for this variant (Variation ID: 1043866). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs764564619, gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 191 of the PALLD protein (p.Asp191Asn). |
Ambry Genetics | RCV004036537 | SCV003913704 | uncertain significance | not specified | 2022-11-19 | criteria provided, single submitter | clinical testing | The p.D678N variant (also known as c.2032G>A), located in coding exon 10 of the PALLD gene, results from a G to A substitution at nucleotide position 2032. The aspartic acid at codon 678 is replaced by asparagine, an amino acid with highly 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. |