ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4027C>G (p.Leu1343Val)

gnomAD frequency: 0.00001  dbSNP: rs183741384
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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 RCV001202707 SCV001373830 uncertain significance Early myoclonic encephalopathy 2019-09-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is present in population databases (rs183741384, ExAC 0.009%). This sequence change replaces leucine with valine at codon 1343 of the JMJD1C protein (p.Leu1343Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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"). 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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