ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3933T>C (p.Ser1311=)

dbSNP: rs1486531413
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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 RCV001303424 SCV001492670 uncertain significance Early myoclonic encephalopathy 2020-01-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence change affects codon 1311 of the JMJD1C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JMJD1C protein.

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