ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5212C>T (p.Arg1738Cys)

dbSNP: rs770904355
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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 RCV001218609 SCV001390497 uncertain significance Early myoclonic encephalopathy 2019-06-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This sequence change replaces arginine with cysteine at codon 1738 of the JMJD1C protein (p.Arg1738Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs770904355, ExAC 0.006%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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