ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.870C>A (p.Asn290Lys)

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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 RCV003600063 SCV004466742 uncertain significance Early myoclonic encephalopathy 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 290 of the JMJD1C protein (p.Asn290Lys). 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. 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 tolerated. 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.

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