ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1894A>C (p.Lys632Gln)

gnomAD frequency: 0.00001  dbSNP: rs1353029152
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 RCV001898847 SCV002175797 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LZTR1 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1403709). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 632 of the LZTR1 protein (p.Lys632Gln). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions.
Ambry Genetics RCV002407037 SCV002719489 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-23 criteria provided, single submitter clinical testing The p.K632Q variant (also known as c.1894A>C), located in coding exon 16 of the LZTR1 gene, results from an A to C substitution at nucleotide position 1894. The lysine at codon 632 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003471028 SCV004193624 uncertain significance Schwannomatosis 2 2023-07-03 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.