ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln)

gnomAD frequency: 0.00004  dbSNP: rs376394488
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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 RCV000231402 SCV000286288 uncertain significance Pancreatic adenocarcinoma 2022-06-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 238608). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs376394488, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 569 of the PALLD protein (p.Arg569Gln).
Ambry Genetics RCV004020779 SCV003855677 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The p.R1056Q variant (also known as c.3167G>A), located in coding exon 17 of the PALLD gene, results from a G to A substitution at nucleotide position 3167. The arginine at codon 1056 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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