ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys)

gnomAD frequency: 0.00012  dbSNP: rs149442347
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281007 SCV001468406 uncertain significance Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 2021-03-30 criteria provided, single submitter clinical testing ADAMTSL4 NM_019032.5 exon 14 p.Arg781Cys (c.2341C>T): This variant has not been reported in the literature but is present in 0.03% (13/35410) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-150530584-C-T). Evolutionary conservation predicts that this variant may not impact the protein. However, computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001871626 SCV002312666 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 781 of the ADAMTSL4 protein (p.Arg781Cys). This variant is present in population databases (rs149442347, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 992534). 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 ADAMTSL4 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.
Genome-Nilou Lab RCV003339578 SCV004049615 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339577 SCV004049617 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 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.