ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) (rs149850248)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578630 SCV000680819 pathogenic not provided 2021-06-27 criteria provided, single submitter clinical testing Observed in the published literature in patients with schwannomatosis, including at least once as an apparently de novo variant (Paganini 2015, Kehrer-Sawatzki 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25335493, 30006736, 27535533)
Invitae RCV000578630 SCV001390708 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg340*) in the LZTR1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with schwannomatosis (PMID: 25335493). ClinVar contains an entry for this variant (Variation ID: 488877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in LZTR1 are known to be pathogenic (PMID: 24362817, 25335493, 25480913, 29469822, 30442762, 30859559). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001293930 SCV001482630 pathogenic Noonan syndrome 10 2020-12-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in a patient affected by schwannomatosis [PMID 25335493]
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310194 SCV001499794 pathogenic Schwannomatosis 2 2020-04-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001310194 SCV001934240 likely pathogenic Schwannomatosis 2 2020-10-14 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV000578630 SCV002022744 likely pathogenic not provided 2021-08-20 no assertion criteria provided 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.