ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.803A>T (p.Gln268Leu)

dbSNP: rs757837342
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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 RCV001306260 SCV001495622 uncertain significance Early myoclonic encephalopathy 2020-04-27 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JMJD1C-related disease. This variant is present in population databases (rs757837342, ExAC 0.03%). This sequence change replaces glutamine with leucine at codon 268 of the JMJD1C protein (p.Gln268Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002486195 SCV002775044 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing

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