ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.208G>C (p.Glu70Gln)

dbSNP: rs1169735254
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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 RCV001220852 SCV001392864 uncertain significance Early myoclonic encephalopathy 2021-07-17 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 70 of the JMJD1C protein (p.Glu70Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine.
Ambry Genetics RCV004032400 SCV004889511 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.208G>C (p.E70Q) alteration is located in exon 2 (coding exon 2) of the JMJD1C gene. This alteration results from a G to C substitution at nucleotide position 208, causing the glutamic acid (E) at amino acid position 70 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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