ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1480del (p.Arg494fs)

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 RCV003216363 SCV003911681 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-05 criteria provided, single submitter clinical testing The c.1480delA pathogenic mutation, located in coding exon 14 of the LZTR1 gene, results from a deletion of one nucleotide at nucleotide position 1480, causing a translational frameshift with a predicted alternate stop codon (p.R494Gfs*62). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is pathogenic for an increased risk of LZTR1-related schwannomatosis (SWN) and would be expected to cause autosomal recessive Noonan syndrome when present along with a second pathogenic or likely pathogenic variant on the other allele; however, the association of this alteration with autosomal dominant Noonan syndrome is unlikely.

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.