ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2366A>G (p.Glu789Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004062664 SCV002734953 uncertain significance not specified 2024-02-16 criteria provided, single submitter clinical testing The p.E772G variant (also known as c.2315A>G), located in coding exon 12 of the PALLD gene, results from an A to G substitution at nucleotide position 2315. The glutamic acid at codon 772 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005098067 SCV005820221 uncertain significance Pancreatic adenocarcinoma 2024-05-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 285 of the PALLD protein (p.Glu285Gly). This variant is present in population databases (rs763900244, gnomAD 0.002%). 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: 1789481). 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.

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