ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3506A>G (p.His1169Arg)

gnomAD frequency: 0.00001  dbSNP: rs759583553
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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 RCV001340122 SCV001533921 uncertain significance Early myoclonic encephalopathy 2022-07-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1037030). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs759583553, gnomAD 0.006%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1169 of the JMJD1C protein (p.His1169Arg). 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. 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 create or strengthen a splice site.

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