ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2329A>G (p.Ile777Val)

dbSNP: rs377284540
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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 RCV001302445 SCV001491655 uncertain significance Early myoclonic encephalopathy 2023-04-24 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: 1005554). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs377284540, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 777 of the JMJD1C protein (p.Ile777Val).

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