ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.17G>A (p.Arg6Gln)

dbSNP: rs929768765
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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 RCV001227033 SCV001399369 uncertain significance Early myoclonic encephalopathy 2023-09-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 6 of the JMJD1C protein (p.Arg6Gln). ClinVar contains an entry for this variant (Variation ID: 954559). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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