ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.474_475delinsAA (p.Leu159Ile)

dbSNP: rs2133275184
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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 RCV001361601 SCV001557580 uncertain significance Early myoclonic encephalopathy 2020-05-26 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 159 of the JMJD1C protein (p.Leu159Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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