Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001207631 | SCV001378993 | uncertain significance | Pancreatic adenocarcinoma | 2019-09-12 | 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: "Not available"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 aspartic acid with histidine at codon 642 of the PALLD protein (p.Asp642His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. |
Ambry Genetics | RCV004837788 | SCV005463859 | uncertain significance | not specified | 2024-10-05 | criteria provided, single submitter | clinical testing | The p.D642H variant (also known as c.1924G>C), located in coding exon 11 of the PALLD gene, results from a G to C substitution at nucleotide position 1924. The aspartic acid at codon 642 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |