ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12903C>G

gnomAD frequency: 0.00003  dbSNP: rs1476099718
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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 RCV001231892 SCV001404428 uncertain significance Pancreatic adenocarcinoma 2023-08-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 958681). 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 0.01%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 43 of the PALLD protein (p.Ser43Cys).
Ambry Genetics RCV004837792 SCV005463912 uncertain significance not specified 2024-11-21 criteria provided, single submitter clinical testing The p.S43C variant (also known as c.128C>G), located in coding exon 1 of the PALLD gene, results from a C to G substitution at nucleotide position 128. The serine at codon 43 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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