Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002886690 | SCV003254463 | uncertain significance | Pancreatic adenocarcinoma | 2022-02-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 637 of the PALLD protein (p.Tyr637Phe). 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 C0"). |
Ambry Genetics | RCV004066190 | SCV004999927 | uncertain significance | not specified | 2024-01-09 | criteria provided, single submitter | clinical testing | The c.1910A>T (p.Y637F) alteration is located in exon 12 (coding exon 11) of the PALLD gene. This alteration results from a A to T substitution at nucleotide position 1910, causing the tyrosine (Y) at amino acid position 637 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |