ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4378A>G (p.Ser1460Gly)

gnomAD frequency: 0.00001  dbSNP: rs1381439092
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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 RCV000812611 SCV000952930 uncertain significance Early myoclonic encephalopathy 2022-08-24 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 present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1460 of the JMJD1C protein (p.Ser1460Gly). ClinVar contains an entry for this variant (Variation ID: 656242). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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