ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1135A>G (p.Ser379Gly)

dbSNP: rs1847816499
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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 RCV001237843 SCV001410625 uncertain significance Early myoclonic encephalopathy 2019-09-24 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This sequence change replaces serine with glycine at codon 379 of the JMJD1C protein (p.Ser379Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency).

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