Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000123178 | SCV000166483 | uncertain significance | Pancreatic adenocarcinoma | 2021-03-24 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 136012). This variant is present in population databases (rs559000839, ExAC 0.06%). This sequence change replaces glutamic acid with glutamine at codon 272 of the PALLD protein (p.Glu272Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. |
| Ambry Genetics | RCV004019709 | SCV004094813 | uncertain significance | not specified | 2023-06-17 | criteria provided, single submitter | clinical testing | The p.E759Q variant (also known as c.2275G>C), located in coding exon 12 of the PALLD gene, results from a G to C substitution at nucleotide position 2275. The glutamic acid at codon 759 is replaced by glutamine, an amino acid with highly 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. |