ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7303C>T (p.Leu2435Phe)

dbSNP: rs1311184859
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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 RCV000693692 SCV000821572 uncertain significance Early myoclonic encephalopathy 2018-01-15 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: "Probably Damaging"; 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 leucine with phenylalanine at codon 2435 of the JMJD1C protein (p.Leu2435Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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