ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2065C>T (p.Arg689Cys)

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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 RCV003069692 SCV003471962 uncertain significance Pancreatic adenocarcinoma 2022-07-27 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 202 of the PALLD protein (p.Arg202Cys).
Ambry Genetics RCV004071862 SCV005027051 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The p.R689C variant (also known as c.2065C>T), located in coding exon 10 of the PALLD gene, results from a C to T substitution at nucleotide position 2065. The arginine at codon 689 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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