ClinVar Miner

Submissions for variant NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter)

dbSNP: rs765879360
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
Invitae RCV002533142 SCV003314649 uncertain significance not provided 2023-06-13 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. ClinVar contains an entry for this variant (Variation ID: 522506). This premature translational stop signal has been observed in individual(s) with pancreatic lipase deficiency (PMID: 35284057). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp419*) in the PNLIP gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PNLIP cause disease.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625648 SCV000746151 likely pathogenic Pancreatic triacylglycerol lipase deficiency 2017-10-06 no assertion criteria provided clinical testing

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.