ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.64G>A (p.Glu22Lys)

gnomAD frequency: 0.00001  dbSNP: rs770258446
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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 RCV001245352 SCV001418635 uncertain significance Early myoclonic encephalopathy 2022-04-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 969900). 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: "Benign"; 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. This variant is present in population databases (rs770258446, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 22 of the JMJD1C protein (p.Glu22Lys).

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