ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12930C>T

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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 RCV004841354 SCV005463892 uncertain significance not specified 2024-11-22 criteria provided, single submitter clinical testing The p.P34L variant (also known as c.101C>T), located in coding exon 1 of the PALLD gene, results from a C to T substitution at nucleotide position 101. The proline at codon 34 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061506 SCV005700406 uncertain significance Pancreatic adenocarcinoma 2024-06-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 34 of the PALLD protein (p.Pro34Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. 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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