ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5774A>G (p.Glu1925Gly)

gnomAD frequency: 0.00001  dbSNP: rs376099176
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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 RCV001316205 SCV001506811 uncertain significance Early myoclonic encephalopathy 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1925 of the JMJD1C protein (p.Glu1925Gly). This variant is present in population databases (rs376099176, gnomAD 0.007%). 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: 1017103). 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 RCV004034386 SCV003974919 uncertain significance not specified 2023-04-13 criteria provided, single submitter clinical testing The c.5774A>G (p.E1925G) alteration is located in exon 15 (coding exon 15) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 5774, causing the glutamic acid (E) at amino acid position 1925 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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