ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.47T>C (p.Leu16Pro)

gnomAD frequency: 0.00001  dbSNP: rs578100969
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
Invitae RCV001203015 SCV001374158 uncertain significance not provided 2023-05-14 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LZTR1 protein function. ClinVar contains an entry for this variant (Variation ID: 934595). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (rs578100969, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 16 of the LZTR1 protein (p.Leu16Pro).
Ambry Genetics RCV002339508 SCV002639571 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-03-06 criteria provided, single submitter clinical testing The p.L16P variant (also known as c.47T>C), located in coding exon 1 of the LZTR1 gene, results from a T to C substitution at nucleotide position 47. The leucine at codon 16 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570423 SCV005060681 uncertain significance Schwannomatosis 2 2023-12-19 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.