ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.223T>C (p.Tyr75His)

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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 RCV002731573 SCV003012717 uncertain significance Early myoclonic encephalopathy 2023-07-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs190890554, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 75 of the JMJD1C protein (p.Tyr75His). 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: 1976743).

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