ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.7402G>A (p.Val2468Ile)

gnomAD frequency: 0.00003  dbSNP: rs746631132
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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 RCV001220306 SCV001392286 uncertain significance Early myoclonic encephalopathy 2020-06-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JMJD1C-related conditions. This variant is present in population databases (rs746631132, ExAC 0.01%). This sequence change replaces valine with isoleucine at codon 2468 of the JMJD1C protein (p.Val2468Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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: "Deleterious"; 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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