ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2799T>G (p.His933Gln)

gnomAD frequency: 0.00001  dbSNP: rs779543350
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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 RCV001371453 SCV001568018 uncertain significance Early myoclonic encephalopathy 2023-05-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1061805). 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. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs779543350, gnomAD 0.02%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 933 of the JMJD1C protein (p.His933Gln).
Ambry Genetics RCV004037505 SCV003937748 uncertain significance not specified 2023-05-31 criteria provided, single submitter clinical testing The c.2799T>G (p.H933Q) alteration is located in exon 9 (coding exon 9) of the JMJD1C gene. This alteration results from a T to G substitution at nucleotide position 2799, causing the histidine (H) at amino acid position 933 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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