ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1319A>T (p.Asp440Val)

dbSNP: rs1589169292
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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 RCV000824134 SCV000965019 uncertain significance Early myoclonic encephalopathy 2019-07-11 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 440 of the JMJD1C protein (p.Asp440Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine.

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