ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1975A>G (p.Lys659Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601963 SCV004553267 uncertain significance Early myoclonic encephalopathy 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 659 of the JMJD1C protein (p.Lys659Glu). This variant is present in population databases (rs750493771, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. 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.
Ambry Genetics RCV004374336 SCV004889510 uncertain significance not specified 2023-10-25 criteria provided, single submitter clinical testing The c.1975A>G (p.K659E) alteration is located in exon 8 (coding exon 8) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 1975, causing the lysine (K) at amino acid position 659 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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