ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12671G>A

gnomAD frequency: 0.00001  dbSNP: rs1048578217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001880727 SCV002144736 uncertain significance Pancreatic adenocarcinoma 2021-10-27 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This sequence change affects codon 120 of the PALLD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PALLD protein.

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