ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7621T>G (p.Ter2541Glu)

gnomAD frequency: 0.00003  dbSNP: rs371070678
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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 RCV001216971 SCV001388796 uncertain significance Early myoclonic encephalopathy 2022-10-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 946165). 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 (rs371070678, gnomAD 0.004%). This sequence change disrupts the translational stop signal of the JMJD1C mRNA. It is expected to extend the length of the JMJD1C protein by 2 additional amino acid residues.

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