Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001887591 | SCV002162319 | uncertain significance | Pancreatic adenocarcinoma | 2020-12-10 | 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 C55"). 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 lysine with glutamic acid at codon 172 of the PALLD protein (p.Lys172Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
Ambry Genetics | RCV004041624 | SCV003573297 | uncertain significance | not specified | 2024-11-26 | criteria provided, single submitter | clinical testing | The p.K172E variant (also known as c.514A>G), located in coding exon 2 of the PALLD gene, results from an A to G substitution at nucleotide position 514. The lysine at codon 172 is replaced by glutamic acid, 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. |
Prevention |
RCV004752095 | SCV005342028 | uncertain significance | PALLD-related disorder | 2024-06-21 | no assertion criteria provided | clinical testing | The PALLD c.1975A>G variant is predicted to result in the amino acid substitution p.Lys659Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1397216/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |