ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7328A>G (p.Tyr2443Cys)

gnomAD frequency: 0.00001  dbSNP: rs777189076
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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 RCV001341492 SCV001535370 uncertain significance Early myoclonic encephalopathy 2022-08-22 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1038217). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs777189076, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2443 of the JMJD1C protein (p.Tyr2443Cys).

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