ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1247C>T (p.Pro416Leu)

gnomAD frequency: 0.00001  dbSNP: rs369760698
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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 RCV001211237 SCV001382765 uncertain significance Early myoclonic encephalopathy 2019-07-30 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is present in population databases (rs369760698, ExAC 0.002%). This sequence change replaces proline with leucine at codon 416 of the JMJD1C protein (p.Pro416Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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