ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6459A>T (p.Leu2153Phe)

dbSNP: rs752775581
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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 RCV001350218 SCV001544600 uncertain significance Early myoclonic encephalopathy 2020-10-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JMJD1C-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs752775581, ExAC 0.006%). This sequence change replaces leucine with phenylalanine at codon 2153 of the JMJD1C protein (p.Leu2153Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.

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