ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val)

dbSNP: rs587780198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116048 SCV000149957 uncertain significance not provided 2013-12-26 criteria provided, single submitter clinical testing PALLD has been only recently described in association with pancreatic cancer and the risks are not well understood. This variant is denoted PALLD c.2476A>G at the cDNA level, p.Ile826Val (I826V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PALLD Ile826Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating 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 only moderately conserved throughout evolution and is located in the region for interaction with EPS8, ARGBP2, SPIN90, SRC, and PFN1 (UniProt). In silico analyses predict this variant to have a benign effect on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the PALLD gene, remain unclear.
Invitae RCV001854560 SCV002129946 uncertain significance Pancreatic adenocarcinoma 2021-06-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PALLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 128104). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 339 of the PALLD protein (p.Ile339Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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