ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.678+5A>G

dbSNP: rs1350682924
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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 RCV001062822 SCV001227645 uncertain significance Early myoclonic encephalopathy 2020-02-10 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. 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. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the JMJD1C gene. It does not directly change the encoded amino acid sequence of the JMJD1C protein, but it affects a nucleotide within the consensus splice site of the intron.

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