ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5528G>A (p.Arg1843Gln)

gnomAD frequency: 0.00003  dbSNP: rs376317959
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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 RCV001350125 SCV001544503 uncertain significance Early myoclonic encephalopathy 2023-05-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs376317959, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1843 of the JMJD1C protein (p.Arg1843Gln). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1045674).

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