ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7495C>A (p.Leu2499Ile)

gnomAD frequency: 0.00004  dbSNP: rs532878838
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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 RCV001298628 SCV001487691 uncertain significance Early myoclonic encephalopathy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 2499 of the JMJD1C protein (p.Leu2499Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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