ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.97_105del (p.Gly33_Arg35del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003858205 SCV004655070 uncertain significance Early myoclonic encephalopathy 2023-12-12 criteria provided, single submitter clinical testing This variant, c.97_105del, results in the deletion of 3 amino acid(s) of the JMJD1C protein (p.Gly33_Arg35del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004696571 SCV005190778 uncertain significance not provided criteria provided, single submitter not provided

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