ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6571-11_6571-8del

dbSNP: rs763592727
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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 RCV001346134 SCV001540309 uncertain significance Early myoclonic encephalopathy 2020-11-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs763592727, ExAC 0.04%). This sequence change falls in intron 18 of the JMJD1C gene. It does not directly change the encoded amino acid sequence of the JMJD1C protein. This variant has not been reported in the literature in individuals 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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