Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002014127 | SCV002304130 | uncertain significance | Pancreatic adenocarcinoma | 2021-01-01 | 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 present in population databases (rs755556663, ExAC 0.01%). This sequence change replaces alanine with threonine at codon 429 of the PALLD protein (p.Ala429Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |
Ambry Genetics | RCV004046682 | SCV003913674 | uncertain significance | not specified | 2023-02-25 | criteria provided, single submitter | clinical testing | The p.A916T variant (also known as c.2746G>A), located in coding exon 15 of the PALLD gene, results from a G to A substitution at nucleotide position 2746. The alanine at codon 916 is replaced by threonine, an amino acid with 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. |