ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn)

dbSNP: rs1380474191
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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 RCV001296723 SCV001485696 uncertain significance Pancreatic adenocarcinoma 2020-03-01 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 346 of the PALLD protein (p.Thr346Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.
Ambry Genetics RCV004036044 SCV002742648 uncertain significance not specified 2021-09-20 criteria provided, single submitter clinical testing The p.T833N variant (also known as c.2498C>A), located in coding exon 13 of the PALLD gene, results from a C to A substitution at nucleotide position 2498. The threonine at codon 833 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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