ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6327T>A (p.Leu2109=)

dbSNP: rs531453499
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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 RCV000817921 SCV000958508 uncertain significance Early myoclonic encephalopathy 2018-09-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs531453499, ExAC 0.006%). This sequence change affects codon 2109 of the JMJD1C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JMJD1C protein. This variant has not been reported in the literature in individuals with JMJD1C-related disease. 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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