ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3451A>G (p.Lys1151Glu)

gnomAD frequency: 0.00002  dbSNP: rs909561888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241429 SCV001414443 uncertain significance Early myoclonic encephalopathy 2021-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JMJD1C-related disease. This sequence change replaces lysine with glutamic acid at codon 1151 of the JMJD1C protein (p.Lys1151Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.
Ambry Genetics RCV004629514 SCV005127364 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing The c.3451A>G (p.K1151E) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a A to G substitution at nucleotide position 3451, causing the lysine (K) at amino acid position 1151 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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