Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004049043 | SCV002611733 | uncertain significance | not specified | 2022-09-28 | criteria provided, single submitter | clinical testing | The p.D1078H variant (also known as c.3232G>C), located in coding exon 18 of the PALLD gene, results from a G to C substitution at nucleotide position 3232. The aspartic acid at codon 1078 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003099319 | SCV003021732 | uncertain significance | Pancreatic adenocarcinoma | 2022-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 591 of the PALLD protein (p.Asp591His). 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. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs765135925, gnomAD 0.008%). |