ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser)

dbSNP: rs771679229
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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 RCV001317781 SCV001508456 uncertain significance Pancreatic adenocarcinoma 2020-10-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 581 of the PALLD protein (p.Cys581Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant has not been reported in the literature in individuals with PALLD-related conditions. 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"). 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 RCV004034433 SCV002610387 uncertain significance not specified 2024-04-05 criteria provided, single submitter clinical testing The p.C1068S variant (also known as c.3203G>C), located in coding exon 18 of the PALLD gene, results from a G to C substitution at nucleotide position 3203. The cysteine at codon 1068 is replaced by serine, an amino acid with 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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