ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1703A>C (p.Asp568Ala)

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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 RCV002927024 SCV003257050 uncertain significance Early myoclonic encephalopathy 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 568 of the JMJD1C protein (p.Asp568Ala). 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 variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs201464655, gnomAD 0.006%).

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