ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5945C>G (p.Ser1982Cys)

gnomAD frequency: 0.00006  dbSNP: rs371819371
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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 RCV000687938 SCV000815531 uncertain significance Early myoclonic encephalopathy 2022-08-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 567767). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. This variant is present in population databases (rs371819371, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1982 of the JMJD1C protein (p.Ser1982Cys). 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.

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