ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.201-1G>A

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
Ambry Genetics RCV002417366 SCV002724313 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-08-16 criteria provided, single submitter clinical testing The c.201-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 2 of the LZTR1 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site, and RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). However, the resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay, and the exact functional effect of the altered amino acid sequence is unknown. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464542 SCV004193702 likely pathogenic LZTR1-related schwannomatosis 2022-09-26 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.