ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.853C>A (p.Pro285Thr)

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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 RCV003600745 SCV004389241 uncertain significance Early myoclonic encephalopathy 2023-05-25 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. 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. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs767519332, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 285 of the JMJD1C protein (p.Pro285Thr).

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