ClinVar Miner

Submissions for variant NM_001126049.2(KLLN):c.-828C>T (rs786203674)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167085 SCV000217913 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000578861 SCV000680565 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-1155G>A, and describes a nucleotide substitution 1155 base pairsupstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the basethat is substituted in brackets, is AACC[G/A]GCCC. This variant, also called c.-1154G>A using alternate numbering,has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed inindividuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclearwhether PTEN c.-1155G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763680 SCV000894560 uncertain significance Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2018-10-31 criteria provided, single submitter 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.