ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2356G>A (p.Val786Met)

gnomAD frequency: 0.00004  dbSNP: rs587780197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116047 SCV000149956 uncertain significance not provided 2013-12-24 criteria provided, single submitter clinical testing This variant is denoted PALLD c.2305G>A at the cDNA level and p.Val769Met (V769M) at the protein level, and results in the change of a Valine to a Methionine (GTG>ATG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PALLD Val769Met was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is well conserved through mammals, and is located in the region responsible for interaction with ESP8. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on the currently available information, we consider PALLD Val769Met to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000205580 SCV000259759 uncertain significance Pancreatic adenocarcinoma 2024-08-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 282 of the PALLD protein (p.Val282Met). This variant is present in population databases (rs587780197, gnomAD 0.02%). 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: 128103). 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 RCV004837747 SCV005463850 uncertain significance not specified 2024-11-18 criteria provided, single submitter clinical testing The p.V282M variant (also known as c.844G>A), located in coding exon 4 of the PALLD gene, results from a G to A substitution at nucleotide position 844. The valine at codon 282 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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