ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu)

dbSNP: rs1050591975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365430 SCV001561702 uncertain significance Pancreatic adenocarcinoma 2020-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PALLD-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 255 of the PALLD protein (p.Gln255Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
Ambry Genetics RCV005385070 SCV006047528 uncertain significance not specified 2025-01-27 criteria provided, single submitter clinical testing The p.Q255E variant (also known as c.763C>G), located in coding exon 4 of the PALLD gene, results from a C to G substitution at nucleotide position 763. The glutamine at codon 255 is replaced by glutamic acid, an amino acid with highly 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.

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