ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1164-1G>A (rs866612394)

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
Invitae RCV000543378 SCV000655126 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2018-10-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the POT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family with 3 individuals affected with chronic lymphocytic leukemia (PMID: 27528712). ClinVar contains an entry for this variant (Variation ID: 475026). Donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547). However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in POT1 cause disease. 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.

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.