ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.847C>T (p.Arg283Trp)

dbSNP: rs1346699262
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992608 SCV002224461 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 283 of the LZTR1 protein (p.Arg283Trp).
Baylor Genetics RCV003471098 SCV004193606 uncertain significance Schwannomatosis 2 2023-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558754 SCV005048050 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-06 criteria provided, single submitter clinical testing The p.R283W variant (also known as c.847C>T), located in coding exon 9 of the LZTR1 gene, results from a C to T substitution at nucleotide position 847. The arginine at codon 283 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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.