ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.4844G>A (p.Arg1615Lys)

dbSNP: rs2492664615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004401255 SCV004889526 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.4844G>A (p.R1615K) alteration is located in exon 10 (coding exon 10) of the JMJD1C gene. This alteration results from a G to A substitution at nucleotide position 4844, causing the arginine (R) at amino acid position 1615 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104486 SCV005750316 uncertain significance Early myoclonic encephalopathy 2024-02-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1615 of the JMJD1C protein (p.Arg1615Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JMJD1C-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt JMJD1C protein function with a negative predictive value of 80%. 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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