ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6409G>A (p.Glu2137Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004277561 SCV003902513 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.6409G>A (p.E2137K) alteration is located in exon 18 (coding exon 18) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 6409, causing the glutamic acid (E) at amino acid position 2137 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003600451 SCV004376627 uncertain significance Early myoclonic encephalopathy 2023-07-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2137 of the JMJD1C protein (p.Glu2137Lys). This variant is present in population databases (rs751191855, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 2488200). 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 JMJD1C 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.

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.