ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2363A>G (p.His788Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601970 SCV004552842 uncertain significance Early myoclonic encephalopathy 2023-09-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs758979265, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 788 of the JMJD1C protein (p.His788Arg). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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.

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