ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del)

dbSNP: rs764632652
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817847 SCV002069324 uncertain significance not specified 2019-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478064 SCV002791830 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2021-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545185 SCV003245468 uncertain significance not provided 2023-05-15 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1338476). This variant has not been reported in the literature in individuals affected with ANK3-related conditions. This variant is present in population databases (rs764632652, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant, c.5776_5778del, results in the deletion of 1 amino acid(s) of the ANK3 protein (p.Glu1926del), but otherwise preserves the integrity of the reading frame.
Daryl Scott Lab, Baylor College of Medicine RCV002478064 SCV004102719 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988777 SCV005616512 likely benign Inborn genetic diseases 2024-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.