ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3729A>T (p.Lys1243Asn)

gnomAD frequency: 0.00002  dbSNP: rs1028683855
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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 RCV001055316 SCV001219703 uncertain significance Early myoclonic encephalopathy 2021-04-16 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JMJD1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 851018). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1243 of the JMJD1C protein (p.Lys1243Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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