ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6292-5A>G

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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 RCV003600705 SCV004386467 uncertain significance Early myoclonic encephalopathy 2024-01-12 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the JMJD1C gene. It does not directly change the encoded amino acid sequence of the JMJD1C protein. This variant is present in population databases (rs752205873, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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