ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1387C>T (p.His463Tyr)

gnomAD frequency: 0.00012  dbSNP: rs61757562
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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 RCV000544496 SCV000632269 uncertain significance Early myoclonic encephalopathy 2022-11-17 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. ClinVar contains an entry for this variant (Variation ID: 460215). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs61757562, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 463 of the JMJD1C protein (p.His463Tyr).

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