ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2377C>T (p.Pro793Ser)

dbSNP: rs761363257
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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 RCV000552476 SCV000632284 uncertain significance Early myoclonic encephalopathy 2017-03-21 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs761363257, ExAC 0.009%) but has not been reported in the literature in individuals with a JMJD1C-related disease. This sequence change replaces proline with serine at codon 793 of the JMJD1C protein (p.Pro793Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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