Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004063102 | SCV002751847 | uncertain significance | not specified | 2022-09-08 | criteria provided, single submitter | clinical testing | The p.H967R variant (also known as c.2900A>G), located in coding exon 16 of the PALLD gene, results from an A to G substitution at nucleotide position 2900. The histidine at codon 967 is replaced by arginine, an amino acid with highly 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. |
Labcorp Genetics |
RCV003102856 | SCV003506233 | uncertain significance | Pancreatic adenocarcinoma | 2022-09-30 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs754402562, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 480 of the PALLD protein (p.His480Arg). |