ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.353C>G (p.Ser118Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV002280005 SCV002568088 likely benign Pancreatic cancer, susceptibility to, 1 2022-07-26 no assertion criteria provided clinical testing This variant is present 21 times in the Genome Aggregation Database (gnomAD), which aims to exclude individuals with severe pediatric disease. GnomAD data for the PALLD gene indicates that it likely tolerates loss-of-function variants. Some missense variants in PALLD have been associated with increased pancreatic cancer risk (Pogue-Geile 2006, Liotta 2021); however, this remains contested within the medical community and literature (Zogopoulos 2007). Heterozygous protein truncating variants in PALLD have not been previously reported as associated with increased cancer risk. Given the absence of this variant in ClinVar and the prevalence in gnomAD with no reported disease cases, the current classification for PALLD c.353C>G (p.S118X) is likely benign.

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