ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2539C>G (p.Gln847Glu)

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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 RCV002659490 SCV002984830 uncertain significance Early myoclonic encephalopathy 2024-05-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 847 of the JMJD1C protein (p.Gln847Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1949555). 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 expected to disrupt JMJD1C protein function with a positive predictive value of 80%. 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 RCV004066860 SCV003619377 uncertain significance not specified 2022-04-25 criteria provided, single submitter clinical testing The c.2539C>G (p.Q847E) alteration is located in exon 8 (coding exon 8) of the JMJD1C gene. This alteration results from a C to G substitution at nucleotide position 2539, causing the glutamine (Q) at amino acid position 847 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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