Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001344226 | SCV001538266 | uncertain significance | Pancreatic adenocarcinoma | 2021-05-08 | 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 434 of the PALLD protein (p.Thr434Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. |
Ambry Genetics | RCV004837798 | SCV005463956 | uncertain significance | not specified | 2024-12-08 | criteria provided, single submitter | clinical testing | The p.T434S variant (also known as c.1300A>T), located in coding exon 7 of the PALLD gene, results from an A to T substitution at nucleotide position 1300. The threonine at codon 434 is replaced by serine, 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. |