ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4358C>T (p.Thr1453Ile)

gnomAD frequency: 0.00002  dbSNP: rs778255192
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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 RCV000536427 SCV000632300 uncertain significance Early myoclonic encephalopathy 2021-11-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 460246). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs778255192, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1453 of the JMJD1C protein (p.Thr1453Ile).

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