Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000653473 | SCV000775352 | uncertain significance | Pancreatic adenocarcinoma | 2021-06-08 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with proline at codon 48 of the PALLD protein (p.Ser48Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |
Ambry Genetics | RCV004837771 | SCV005463903 | uncertain significance | not specified | 2024-11-28 | criteria provided, single submitter | clinical testing | The p.S48P variant (also known as c.142T>C), located in coding exon 1 of the PALLD gene, results from a T to C substitution at nucleotide position 142. The serine at codon 48 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |