ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)

gnomAD frequency: 0.00041  dbSNP: rs137854860
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
Invitae RCV001854539 SCV002315282 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1638 of the LTBP2 protein (p.Val1638Met). This variant is present in population databases (rs137854860, gnomAD 0.08%). This missense change has been observed in individual(s) with glaucoma (PMID: 23401661). ClinVar contains an entry for this variant (Variation ID: 126958). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002498491 SCV002779356 uncertain significance Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 2022-05-03 criteria provided, single submitter clinical testing
New York Genome Center RCV003448265 SCV004176179 uncertain significance Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 2023-05-10 criteria provided, single submitter clinical testing
Elahi Laboratory, University of Tehran RCV000114815 SCV000148710 probable-pathogenic Primary open angle glaucoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.