ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys)

gnomAD frequency: 0.00001  dbSNP: rs548068667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315803 SCV000448491 likely benign Carcinoma of pancreas 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000700928 SCV000829705 uncertain significance Pancreatic adenocarcinoma 2024-05-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 545 of the PALLD protein (p.Arg545Cys). This variant is present in population databases (rs548068667, gnomAD 0.01%). 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: 348045). 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 RCV004021956 SCV002606333 uncertain significance not specified 2023-12-31 criteria provided, single submitter clinical testing The p.R1032C variant (also known as c.3094C>T), located in coding exon 17 of the PALLD gene, results from a C to T substitution at nucleotide position 3094. The arginine at codon 1032 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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