ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3419_3424del (p.Ile1140_Ser1142delinsThr)

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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 RCV003600614 SCV004381285 uncertain significance Early myoclonic encephalopathy 2023-01-09 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.3419_3424del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the JMJD1C protein (p.Ile1140_Ser1142delinsThr).

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