Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217304 | SCV001389138 | uncertain significance | Pancreatic adenocarcinoma | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 458 of the PALLD protein (p.Gln458Glu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 946436). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002436832 | SCV002750441 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-09 | criteria provided, single submitter | clinical testing | The p.Q945E variant (also known as c.2833C>G), located in coding exon 16 of the PALLD gene, results from a C to G substitution at nucleotide position 2833. The glutamine at codon 945 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Ambry Genetics | RCV002561921 | SCV003745392 | uncertain significance | Inborn genetic diseases | 2022-04-12 | criteria provided, single submitter | clinical testing | The c.1372C>G (p.Q458E) alteration is located in exon 9 (coding exon 8) of the PALLD gene. This alteration results from a C to G substitution at nucleotide position 1372, causing the glutamine (Q) at amino acid position 458 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |