ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr)

gnomAD frequency: 0.00001  dbSNP: rs759105985
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168277 SCV000218949 uncertain significance Pancreatic adenocarcinoma 2023-03-23 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. 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. This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 281 of the PALLD protein (p.Asp281Tyr). This variant is present in population databases (rs759105985, gnomAD 0.003%). 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: 188290).
Ambry Genetics RCV004020004 SCV002734871 uncertain significance not specified 2021-06-26 criteria provided, single submitter clinical testing The p.D768Y variant (also known as c.2302G>T), located in coding exon 12 of the PALLD gene, results from a G to T substitution at nucleotide position 2302. The aspartic acid at codon 768 is replaced by tyrosine, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.