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
Invitae RCV000700928 SCV000829705 uncertain significance Pancreatic adenocarcinoma 2018-02-14 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PALLD-related disease. This variant is present in population databases (rs548068667, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change replaces arginine with cysteine at codon 545 of the PALLD protein (p.Arg545Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
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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