ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.732_733insCTA (p.Asp244_Asp245insLeu)

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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 RCV003602242 SCV004499674 uncertain significance Early myoclonic encephalopathy 2023-02-22 criteria provided, single submitter clinical testing 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 affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.732_733insCTA, results in the insertion of 1 amino acid(s) of the JMJD1C protein (p.Asp244_Asp245insLeu), but otherwise preserves the integrity of the reading frame.

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