ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg)

gnomAD frequency: 0.00002  dbSNP: rs761530979
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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 RCV000196940 SCV000254727 uncertain significance Pancreatic adenocarcinoma 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 370 of the PALLD protein (p.Gln370Arg). This variant is present in population databases (rs761530979, gnomAD 0.005%). 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: 216531). 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 RCV004020466 SCV002738893 uncertain significance not specified 2024-10-28 criteria provided, single submitter clinical testing The p.Q857R variant (also known as c.2570A>G), located in coding exon 13 of the PALLD gene, results from an A to G substitution at nucleotide position 2570. The glutamine at codon 857 is replaced by arginine, 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.

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