ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1855C>T (p.Pro619Ser)

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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 RCV003052069 SCV003352476 uncertain significance Early myoclonic encephalopathy 2022-05-31 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 variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs778405940, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 619 of the JMJD1C protein (p.Pro619Ser).

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