ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12553G>A

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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 RCV003878722 SCV004678496 uncertain significance Pancreatic adenocarcinoma 2022-12-29 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: "Possibly Damaging"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 160 of the PALLD protein (p.Gly160Arg).
Ambry Genetics RCV004369619 SCV004998322 uncertain significance not specified 2024-11-18 criteria provided, single submitter clinical testing The p.G160R variant (also known as c.478G>A), located in coding exon 1 of the PALLD gene, results from a G to A substitution at nucleotide position 478. The glycine at codon 160 is replaced by arginine, an amino acid with dissimilar 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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