ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln)

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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 RCV003747670 SCV004561746 uncertain significance Pancreatic adenocarcinoma 2023-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 502 of the PALLD protein (p.Arg502Gln). This variant is present in population databases (rs777057820, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004837917 SCV005463889 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The p.R502Q variant (also known as c.1505G>A), located in coding exon 8 of the PALLD gene, results from a G to A substitution at nucleotide position 1505. The arginine at codon 502 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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