ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)

gnomAD frequency: 0.00001  dbSNP: rs745791013
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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249842 SCV001423860 uncertain significance Weill-Marchesani syndrome 3 criteria provided, single submitter research LTBP2 c.3423C>A [p.D1141E] is a missense variant that changes a single amino acid from an aspartic acid to a glutamic acid. This is a rare variant present in population databases at low allele frequency (gnomAD); however this variant has not been previously reported in association with eye disorders and is of uncertain clinical significance.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002069319 SCV002495828 uncertain significance Microspherophakia; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3 2020-12-29 criteria provided, single submitter clinical testing LTBP2 NM_000428.2 exon 23 p.Asp1141Glu (c.3424C>A): This variant has not been reported in the literature but is present in 0.006% (1/15286) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14-74508933-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:973342). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224535 SCV003920162 uncertain significance Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma criteria provided, single submitter clinical testing LTBP2 NM_000428.2 exon 23 p.Asp1141Glu (c.3424C>A): This variant has not been reported in the literature but is present in 0.006% (1/15286) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14-74508933-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:973342). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.