ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2393C>T (p.Thr798Ile)

gnomAD frequency: 0.00001  dbSNP: rs371370423
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 RCV001242744 SCV001415852 uncertain significance Early myoclonic encephalopathy 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 798 of the JMJD1C protein (p.Thr798Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is present in population databases (rs371370423, ExAC 0.006%).

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.