ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4379GTA[3] (p.Ser1461dup)

dbSNP: rs1328002548
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813759 SCV000954131 uncertain significance Early myoclonic encephalopathy 2022-03-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 657194). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.4382_4384dup, results in the insertion of 1 amino acid(s) of the JMJD1C protein (p.Ser1461dup), but otherwise preserves the integrity of the reading frame.

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.