ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys)

gnomAD frequency: 0.00004  dbSNP: rs151071844
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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 RCV000552177 SCV000656933 uncertain significance Pancreatic adenocarcinoma 2020-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PALLD-related disease. This variant is present in population databases (rs151071844, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change replaces arginine with cysteine at codon 490 of the PALLD protein (p.Arg490Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. 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.
Ambry Genetics RCV004837767 SCV005463962 uncertain significance not specified 2024-10-08 criteria provided, single submitter clinical testing The c.1468C>T (p.R490C) alteration is located in exon 9 (coding exon 8) of the PALLD gene. This alteration results from a C to T substitution at nucleotide position 1468, causing the arginine (R) at amino acid position 490 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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