ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6487T>G (p.Cys2163Gly)

dbSNP: rs1554829980
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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 RCV000635169 SCV000756547 uncertain significance Early myoclonic encephalopathy 2017-09-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with JMJD1C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 2163 of the JMJD1C protein (p.Cys2163Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine.

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