ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1781A>G (p.Glu594Gly)

dbSNP: rs1847718295
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236436 SCV001409159 uncertain significance Early myoclonic encephalopathy 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 962559). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 594 of the JMJD1C protein (p.Glu594Gly).

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