ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1806G>A (p.Val602=)

gnomAD frequency: 0.00003  dbSNP: rs1157548960
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893124 SCV002158340 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002407011 SCV002717356 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics Laboratory, Stanford Medicine RCV004579579 SCV005062006 uncertain significance Schwannomatosis 2 2021-07-23 criteria provided, single submitter clinical testing The p.Val602= variant in the LZTR1gene has not been previously reported in association with disease. This varianthas been identified in 1/251,134 chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Although this variant has been seen in the general population, it has not been observed at a frequency high enough to rule out pathogenicity. The p.Val602= variant occurs near the 3’splice site and computational tools do not predictan impact to splicing. However, the accuracy of these computational tools is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Val602= variant is uncertain. Additional information is needed to resolve the significance of this variant.[ACMG evidence codes used: PM2_Supporting]
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782814 SCV005394556 likely benign not specified 2024-09-30 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.