ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1370A>G (p.Gln457Arg)

gnomAD frequency: 0.00005  dbSNP: rs751789655
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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 RCV001048751 SCV001212770 uncertain significance Early myoclonic encephalopathy 2023-08-23 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 845645). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs751789655, gnomAD 0.04%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 457 of the JMJD1C protein (p.Gln457Arg).

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