ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2750T>C (p.Ile917Thr)

gnomAD frequency: 0.00005  dbSNP: rs372956483
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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 RCV001227881 SCV001400259 uncertain significance Early myoclonic encephalopathy 2019-09-17 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 are either unavailable or 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 conditions. This variant is present in population databases (rs372956483, ExAC 0.01%). This sequence change replaces isoleucine with threonine at codon 917 of the JMJD1C protein (p.Ile917Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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