ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA

dbSNP: rs59957960
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498878 SCV000590696 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PCNT gene. The c.6922-5_6922-4insCCTGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.6922-5_6922-4insCCTGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.6922-5_6922-4insCCTGA damages or destroys the natural acceptor site in intron 30 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.