ClinVar Miner

Submissions for variant NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)

gnomAD frequency: 0.00023  dbSNP: rs143681049
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
Cytogenetics and Genomics Laboratory, Medical University of South Carolina RCV000754983 SCV000803393 uncertain significance Leber congenital amaurosis 2018-06-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001046164 SCV001210054 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1155 of the ADAMTS18 protein (p.Arg1155Trp). This variant is present in population databases (rs143681049, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADAMTS18-related conditions. ClinVar contains an entry for this variant (Variation ID: 559528). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
GeneDx RCV001046164 SCV004030772 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.