ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12573C>G

dbSNP: rs1220928329
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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 RCV000807967 SCV000948049 uncertain significance Pancreatic adenocarcinoma 2023-09-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 153 of the PALLD protein (p.Pro153Arg). This variant is present in population databases (no rsID available, 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: 652423). 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 disruptive. 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 RCV004837776 SCV005463845 uncertain significance not specified 2024-11-23 criteria provided, single submitter clinical testing The p.P153R variant (also known as c.458C>G), located in coding exon 1 of the PALLD gene, results from a C to G substitution at nucleotide position 458. The proline at codon 153 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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