ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6136G>C (p.Glu2046Gln)

gnomAD frequency: 0.00010  dbSNP: rs376454657
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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 RCV000635167 SCV000756545 uncertain significance Early myoclonic encephalopathy 2021-11-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 2046 of the JMJD1C protein (p.Glu2046Gln). This variant is present in population databases (rs376454657, gnomAD 0.02%). 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: 529707).
Ambry Genetics RCV004025455 SCV003609546 uncertain significance not specified 2022-02-10 criteria provided, single submitter clinical testing The c.6136G>C (p.E2046Q) alteration is located in exon 17 (coding exon 17) of the JMJD1C gene. This alteration results from a G to C substitution at nucleotide position 6136, causing the glutamic acid (E) at amino acid position 2046 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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