ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1345C>T (p.Arg449Trp)

gnomAD frequency: 0.00001  dbSNP: rs778857216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367803 SCV001564169 uncertain significance Early myoclonic encephalopathy 2022-05-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1058642). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 449 of the JMJD1C protein (p.Arg449Trp). This variant is present in population databases (rs778857216, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV003416277 SCV004125485 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing JMJD1C: BP4

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