ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.264-41_264-17del

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
Ambry Genetics RCV003167999 SCV003861223 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-19 criteria provided, single submitter clinical testing The c.264-41_264-17del25 intronic variant, located in intron 2 of the LZTR1 gene, results from a deletion of 25 nucleotides within intron 2 of the LZTR1 gene. These nucleotide positions are not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.